Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP775425.RAh75zgaJZ4Po5EemnyXi2XskrJw9Q89g8QP63lTFeThY130_assertion> ?p ?o ?g. }
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- NP775425.RAh75zgaJZ4Po5EemnyXi2XskrJw9Q89g8QP63lTFeThY130_assertion type Assertion NP775425.RAh75zgaJZ4Po5EemnyXi2XskrJw9Q89g8QP63lTFeThY130_head.
- NP775425.RAh75zgaJZ4Po5EemnyXi2XskrJw9Q89g8QP63lTFeThY130_assertion description "[Prosaposin deficiency (pSap-d) and saposin B deficiency (SapB-d) are both lipid storage disorders caused by mutations in the PSAP gene that codes for the 65-70 kDa prosaposin protein, which is the precursor for four sphingolipid activator proteins, saposins A-D. We report on two new patients with PSAP gene defects; one, with pSap-d, who had a severe neurovisceral dystrophy and died as a neonate, and the other with SapB-d, who presented with a metachromatic leukodystrophy-like disorder but had normal arylsulfatase activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP775425.RAh75zgaJZ4Po5EemnyXi2XskrJw9Q89g8QP63lTFeThY130_provenance.
- NP775425.RAh75zgaJZ4Po5EemnyXi2XskrJw9Q89g8QP63lTFeThY130_assertion evidence source_evidence_literature NP775425.RAh75zgaJZ4Po5EemnyXi2XskrJw9Q89g8QP63lTFeThY130_provenance.
- NP775425.RAh75zgaJZ4Po5EemnyXi2XskrJw9Q89g8QP63lTFeThY130_assertion SIO_000772 19267410 NP775425.RAh75zgaJZ4Po5EemnyXi2XskrJw9Q89g8QP63lTFeThY130_provenance.
- NP775425.RAh75zgaJZ4Po5EemnyXi2XskrJw9Q89g8QP63lTFeThY130_assertion wasDerivedFrom befree-20140225 NP775425.RAh75zgaJZ4Po5EemnyXi2XskrJw9Q89g8QP63lTFeThY130_provenance.
- NP775425.RAh75zgaJZ4Po5EemnyXi2XskrJw9Q89g8QP63lTFeThY130_assertion wasGeneratedBy ECO_0000203 NP775425.RAh75zgaJZ4Po5EemnyXi2XskrJw9Q89g8QP63lTFeThY130_provenance.