Mutations in PRPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5)

We have identified missense mutations at conserved amino acids in the PRPS1 gene on Xq22.3 in two families with a syndromic form of inherited peripheral neuropathy, one of Asian and one of European descent. The disease is inherited in an X-linked recessive manner, and the affected male patients inva...

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Main Authors: Kim, Hee-Jin , Sohn, Kwang-Min , Shy, Michael E. , Krajewski, Karen M. , Hwang, Miok , Park, June-Hee , Jang, Sue-Yon , Won, Hong-Hee , Choi, Byung-Ok , Hong, Sung Hwa , Kim, Byoung-Joon , Suh, Yeon-Lim , Ki, Chang-Seok , Lee, Soo-Youn , Kim, Sun-Hee , Kim, Jong-Won 
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2007
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1950833/
https://ncbi.nlm.nih.gov/pubmed/17701900
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