Deletion of PREPL, a Gene Encoding a Putative Serine Oligopeptidase, in Patients with Hypotonia-Cystinuria Syndrome

In 11 patients with a recessive congenital disorder, which we refer to as “the hypotonia-cystinuria syndrome,” microdeletion of part of the SLC3A1 and PREPL genes on chromosome 2p21 was found. Patients present with generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor fac...

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Bibliografiske detaljer
Main Authors: Jaeken, Jaak, Martens, Kevin, François, Inge, Eyskens, François, Lecointre, Claudine, Derua, Rita, Meulemans, Sandra, Slootstra, Jerry W., Waelkens, Etienne, Zegher, Francis de, Creemers, John W. M., Matthijs, Gert
Format: Artigo
Sprog:Inglês
Udgivet: The American Society of Human Genetics 2006
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1380222/
https://ncbi.nlm.nih.gov/pubmed/16385448
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