Matches in Nanopublications for { ?s ?p "[Here we describe an additional LND female, who presented with acute renal failure at the age of two months, in whom absence of transcription of the two HPRT alleles occurred due to as yet undescribed mechanism in LND females: the transcription of one HPRT allele was blocked due to a de novo X chromosome-autosome translocation 46,XX,t(X:2)(q26:p25), with a breaking point encompassing the HPRT gene locus, whereas the transcription of the normal allele was inhibited due to non-random inactivation of the second X-chromosome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP775362.RAlceP_JEGS7BDx2MHq_f8x6fxeZFVDPas5aw8M6ipTXI130_assertion description "[Here we describe an additional LND female, who presented with acute renal failure at the age of two months, in whom absence of transcription of the two HPRT alleles occurred due to as yet undescribed mechanism in LND females: the transcription of one HPRT allele was blocked due to a de novo X chromosome-autosome translocation 46,XX,t(X:2)(q26:p25), with a breaking point encompassing the HPRT gene locus, whereas the transcription of the normal allele was inhibited due to non-random inactivation of the second X-chromosome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP775362.RAlceP_JEGS7BDx2MHq_f8x6fxeZFVDPas5aw8M6ipTXI130_provenance.
- NP352392.RAl31ofkIH-SV0LzgblFFWcgdcb7G3HUDr1a7GMEkPyCs130_assertion description "[Here we describe an additional LND female, who presented with acute renal failure at the age of two months, in whom absence of transcription of the two HPRT alleles occurred due to as yet undescribed mechanism in LND females: the transcription of one HPRT allele was blocked due to a de novo X chromosome-autosome translocation 46,XX,t(X:2)(q26:p25), with a breaking point encompassing the HPRT gene locus, whereas the transcription of the normal allele was inhibited due to non-random inactivation of the second X-chromosome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP352392.RAl31ofkIH-SV0LzgblFFWcgdcb7G3HUDr1a7GMEkPyCs130_provenance.
- NP544290.RAvvIAyaqSiTg03zgLcLpIjwaaWhMvQNapU2wrAlIJed8130_assertion description "[Here we describe an additional LND female, who presented with acute renal failure at the age of two months, in whom absence of transcription of the two HPRT alleles occurred due to as yet undescribed mechanism in LND females: the transcription of one HPRT allele was blocked due to a de novo X chromosome-autosome translocation 46,XX,t(X:2)(q26:p25), with a breaking point encompassing the HPRT gene locus, whereas the transcription of the normal allele was inhibited due to non-random inactivation of the second X-chromosome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP544290.RAvvIAyaqSiTg03zgLcLpIjwaaWhMvQNapU2wrAlIJed8130_provenance.
- NP341019.RAWIJE8Y8iBXGBRr74yhCp0Hk8Gm2SGD1qgQst7lHQyQ0130_assertion description "[Here we describe an additional LND female, who presented with acute renal failure at the age of two months, in whom absence of transcription of the two HPRT alleles occurred due to as yet undescribed mechanism in LND females: the transcription of one HPRT allele was blocked due to a de novo X chromosome-autosome translocation 46,XX,t(X:2)(q26:p25), with a breaking point encompassing the HPRT gene locus, whereas the transcription of the normal allele was inhibited due to non-random inactivation of the second X-chromosome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP341019.RAWIJE8Y8iBXGBRr74yhCp0Hk8Gm2SGD1qgQst7lHQyQ0130_provenance.
- NP859344.RAoYr01V_2j_Mk79ijAxYaZSSSv9XfgF77R_7twDxwiOM130_assertion description "[Here we describe an additional LND female, who presented with acute renal failure at the age of two months, in whom absence of transcription of the two HPRT alleles occurred due to as yet undescribed mechanism in LND females: the transcription of one HPRT allele was blocked due to a de novo X chromosome-autosome translocation 46,XX,t(X:2)(q26:p25), with a breaking point encompassing the HPRT gene locus, whereas the transcription of the normal allele was inhibited due to non-random inactivation of the second X-chromosome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP859344.RAoYr01V_2j_Mk79ijAxYaZSSSv9XfgF77R_7twDxwiOM130_provenance.
- assertion description "[Here we describe an additional LND female, who presented with acute renal failure at the age of two months, in whom absence of transcription of the two HPRT alleles occurred due to as yet undescribed mechanism in LND females: the transcription of one HPRT allele was blocked due to a de novo X chromosome-autosome translocation 46,XX,t(X:2)(q26:p25), with a breaking point encompassing the HPRT gene locus, whereas the transcription of the normal allele was inhibited due to non-random inactivation of the second X-chromosome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[Here we describe an additional LND female, who presented with acute renal failure at the age of two months, in whom absence of transcription of the two HPRT alleles occurred due to as yet undescribed mechanism in LND females: the transcription of one HPRT allele was blocked due to a de novo X chromosome-autosome translocation 46,XX,t(X:2)(q26:p25), with a breaking point encompassing the HPRT gene locus, whereas the transcription of the normal allele was inhibited due to non-random inactivation of the second X-chromosome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[Here we describe an additional LND female, who presented with acute renal failure at the age of two months, in whom absence of transcription of the two HPRT alleles occurred due to as yet undescribed mechanism in LND females: the transcription of one HPRT allele was blocked due to a de novo X chromosome-autosome translocation 46,XX,t(X:2)(q26:p25), with a breaking point encompassing the HPRT gene locus, whereas the transcription of the normal allele was inhibited due to non-random inactivation of the second X-chromosome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP743133.RAVu7VTKqQVEIze_i7LUW9HalbSGj-ZbepzI3KSXRcy0A130_assertion description "[Here we describe an additional LND female, who presented with acute renal failure at the age of two months, in whom absence of transcription of the two HPRT alleles occurred due to as yet undescribed mechanism in LND females: the transcription of one HPRT allele was blocked due to a de novo X chromosome-autosome translocation 46,XX,t(X:2)(q26:p25), with a breaking point encompassing the HPRT gene locus, whereas the transcription of the normal allele was inhibited due to non-random inactivation of the second X-chromosome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP743133.RAVu7VTKqQVEIze_i7LUW9HalbSGj-ZbepzI3KSXRcy0A130_provenance.
- NP286716.RA7fWOpf-NQ3QCuiSs2kSUANeQyiALu6LulJ9hj2Jps50130_assertion description "[Here we describe an additional LND female, who presented with acute renal failure at the age of two months, in whom absence of transcription of the two HPRT alleles occurred due to as yet undescribed mechanism in LND females: the transcription of one HPRT allele was blocked due to a de novo X chromosome-autosome translocation 46,XX,t(X:2)(q26:p25), with a breaking point encompassing the HPRT gene locus, whereas the transcription of the normal allele was inhibited due to non-random inactivation of the second X-chromosome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP286716.RA7fWOpf-NQ3QCuiSs2kSUANeQyiALu6LulJ9hj2Jps50130_provenance.
- NP570152.RAz3HS_WauA69hNENdlZ-hbQmj3ZCc654_QKisfTyE8sY130_assertion description "[Here we describe an additional LND female, who presented with acute renal failure at the age of two months, in whom absence of transcription of the two HPRT alleles occurred due to as yet undescribed mechanism in LND females: the transcription of one HPRT allele was blocked due to a de novo X chromosome-autosome translocation 46,XX,t(X:2)(q26:p25), with a breaking point encompassing the HPRT gene locus, whereas the transcription of the normal allele was inhibited due to non-random inactivation of the second X-chromosome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP570152.RAz3HS_WauA69hNENdlZ-hbQmj3ZCc654_QKisfTyE8sY130_provenance.
- NP425698.RAMYLRPVtQVH71C36oGU2GIC7mHTbQOf8BB7rEIVY55_k130_assertion description "[Here we describe an additional LND female, who presented with acute renal failure at the age of two months, in whom absence of transcription of the two HPRT alleles occurred due to as yet undescribed mechanism in LND females: the transcription of one HPRT allele was blocked due to a de novo X chromosome-autosome translocation 46,XX,t(X:2)(q26:p25), with a breaking point encompassing the HPRT gene locus, whereas the transcription of the normal allele was inhibited due to non-random inactivation of the second X-chromosome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP425698.RAMYLRPVtQVH71C36oGU2GIC7mHTbQOf8BB7rEIVY55_k130_provenance.
- NP816929.RA9yJFVjMfbVNplNcg7glmafddqtSwqKuyT5O37PtgiX0130_assertion description "[Here we describe an additional LND female, who presented with acute renal failure at the age of two months, in whom absence of transcription of the two HPRT alleles occurred due to as yet undescribed mechanism in LND females: the transcription of one HPRT allele was blocked due to a de novo X chromosome-autosome translocation 46,XX,t(X:2)(q26:p25), with a breaking point encompassing the HPRT gene locus, whereas the transcription of the normal allele was inhibited due to non-random inactivation of the second X-chromosome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP816929.RA9yJFVjMfbVNplNcg7glmafddqtSwqKuyT5O37PtgiX0130_provenance.
- NP916354.RA1np5GhSh3LJ4bwRh7Tnm_qlZxj8dz263maS_FRwwCVI130_assertion description "[Here we describe an additional LND female, who presented with acute renal failure at the age of two months, in whom absence of transcription of the two HPRT alleles occurred due to as yet undescribed mechanism in LND females: the transcription of one HPRT allele was blocked due to a de novo X chromosome-autosome translocation 46,XX,t(X:2)(q26:p25), with a breaking point encompassing the HPRT gene locus, whereas the transcription of the normal allele was inhibited due to non-random inactivation of the second X-chromosome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP916354.RA1np5GhSh3LJ4bwRh7Tnm_qlZxj8dz263maS_FRwwCVI130_provenance.
- NP821180.RAK1J0PKp0K-oDCS-6ZPgZ0oXTBZZJvIe5sQzVMx5FVIs130_assertion description "[Here we describe an additional LND female, who presented with acute renal failure at the age of two months, in whom absence of transcription of the two HPRT alleles occurred due to as yet undescribed mechanism in LND females: the transcription of one HPRT allele was blocked due to a de novo X chromosome-autosome translocation 46,XX,t(X:2)(q26:p25), with a breaking point encompassing the HPRT gene locus, whereas the transcription of the normal allele was inhibited due to non-random inactivation of the second X-chromosome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP821180.RAK1J0PKp0K-oDCS-6ZPgZ0oXTBZZJvIe5sQzVMx5FVIs130_provenance.
- NP811621.RAOxJd4mBxIoYOqaY6FXdx-dvh-g4p701xWTvJe9oQt78130_assertion description "[Here we describe an additional LND female, who presented with acute renal failure at the age of two months, in whom absence of transcription of the two HPRT alleles occurred due to as yet undescribed mechanism in LND females: the transcription of one HPRT allele was blocked due to a de novo X chromosome-autosome translocation 46,XX,t(X:2)(q26:p25), with a breaking point encompassing the HPRT gene locus, whereas the transcription of the normal allele was inhibited due to non-random inactivation of the second X-chromosome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP811621.RAOxJd4mBxIoYOqaY6FXdx-dvh-g4p701xWTvJe9oQt78130_provenance.
- NP464363.RA_IyH8ke8QvY0-wQJNvHkQ-NwuhZQK6Mfsmvavj50KzQ130_assertion description "[Here we describe an additional LND female, who presented with acute renal failure at the age of two months, in whom absence of transcription of the two HPRT alleles occurred due to as yet undescribed mechanism in LND females: the transcription of one HPRT allele was blocked due to a de novo X chromosome-autosome translocation 46,XX,t(X:2)(q26:p25), with a breaking point encompassing the HPRT gene locus, whereas the transcription of the normal allele was inhibited due to non-random inactivation of the second X-chromosome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP464363.RA_IyH8ke8QvY0-wQJNvHkQ-NwuhZQK6Mfsmvavj50KzQ130_provenance.
- NP526525.RAxeMWTxQz_ZbjjWbuRV4Sz1zGE2wS2Nz-_ftdUKFMho4130_assertion description "[Here we describe an additional LND female, who presented with acute renal failure at the age of two months, in whom absence of transcription of the two HPRT alleles occurred due to as yet undescribed mechanism in LND females: the transcription of one HPRT allele was blocked due to a de novo X chromosome-autosome translocation 46,XX,t(X:2)(q26:p25), with a breaking point encompassing the HPRT gene locus, whereas the transcription of the normal allele was inhibited due to non-random inactivation of the second X-chromosome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP526525.RAxeMWTxQz_ZbjjWbuRV4Sz1zGE2wS2Nz-_ftdUKFMho4130_provenance.