Matches in Nanopublications for { ?s ?p "[While TPM2 mutations identified so far in muscular diseases were all associated with a dominant inheritance pattern, we report the identification of a homozygous null allele mutation in the TPM2 gene in a patient who presented with a recessive form of nemaline myopathy associated with a non-lethal multiple pterygium syndrome (Escobar-MPS MIM# 265000).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP847149.RAW8305USGZL1ykYF6fmoEFONL3tM-F7wd9FMrHV0ii0E130_assertion description "[While TPM2 mutations identified so far in muscular diseases were all associated with a dominant inheritance pattern, we report the identification of a homozygous null allele mutation in the TPM2 gene in a patient who presented with a recessive form of nemaline myopathy associated with a non-lethal multiple pterygium syndrome (Escobar-MPS MIM# 265000).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP847149.RAW8305USGZL1ykYF6fmoEFONL3tM-F7wd9FMrHV0ii0E130_provenance.
- assertion description "[While TPM2 mutations identified so far in muscular diseases were all associated with a dominant inheritance pattern, we report the identification of a homozygous null allele mutation in the TPM2 gene in a patient who presented with a recessive form of nemaline myopathy associated with a non-lethal multiple pterygium syndrome (Escobar-MPS MIM# 265000).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[While TPM2 mutations identified so far in muscular diseases were all associated with a dominant inheritance pattern, we report the identification of a homozygous null allele mutation in the TPM2 gene in a patient who presented with a recessive form of nemaline myopathy associated with a non-lethal multiple pterygium syndrome (Escobar-MPS MIM# 265000).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP756297.RApr8j2Co9qj_Z5Y0GoUuP3grCIIDYJzrMO2QV0MeWAJE130_assertion description "[While TPM2 mutations identified so far in muscular diseases were all associated with a dominant inheritance pattern, we report the identification of a homozygous null allele mutation in the TPM2 gene in a patient who presented with a recessive form of nemaline myopathy associated with a non-lethal multiple pterygium syndrome (Escobar-MPS MIM# 265000).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP756297.RApr8j2Co9qj_Z5Y0GoUuP3grCIIDYJzrMO2QV0MeWAJE130_provenance.
- NP756362.RAgNDUkSXZNAnCRslf0mL5MgfkhImcnZZvorZvic3dMYE130_assertion description "[While TPM2 mutations identified so far in muscular diseases were all associated with a dominant inheritance pattern, we report the identification of a homozygous null allele mutation in the TPM2 gene in a patient who presented with a recessive form of nemaline myopathy associated with a non-lethal multiple pterygium syndrome (Escobar-MPS MIM# 265000).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP756362.RAgNDUkSXZNAnCRslf0mL5MgfkhImcnZZvorZvic3dMYE130_provenance.
- NP715451.RAmfcIIN7NFrHa7pIUbG2bOgy6-EUsw3nx3UN7BB1gJOg130_assertion description "[While TPM2 mutations identified so far in muscular diseases were all associated with a dominant inheritance pattern, we report the identification of a homozygous null allele mutation in the TPM2 gene in a patient who presented with a recessive form of nemaline myopathy associated with a non-lethal multiple pterygium syndrome (Escobar-MPS MIM# 265000).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP715451.RAmfcIIN7NFrHa7pIUbG2bOgy6-EUsw3nx3UN7BB1gJOg130_provenance.
- NP715445.RAKZ-STd-YxL9ueyZJXQvp4T6Bt82dX133C3nUgQ8IHpA130_assertion description "[While TPM2 mutations identified so far in muscular diseases were all associated with a dominant inheritance pattern, we report the identification of a homozygous null allele mutation in the TPM2 gene in a patient who presented with a recessive form of nemaline myopathy associated with a non-lethal multiple pterygium syndrome (Escobar-MPS MIM# 265000).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP715445.RAKZ-STd-YxL9ueyZJXQvp4T6Bt82dX133C3nUgQ8IHpA130_provenance.