Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1

Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Linkage analysis in a Dutch family and an Australian family suggested that the candidate gene maps to Xq22.1-q24. Oligonucleotid...

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Hauptverfasser: de Brouwer, Arjan P. M. , Williams, Kelly L. , Duley, John A. , van Kuilenburg, André B. P. , Nabuurs, Sander B. , Egmont-Petersen, Michael , Lugtenberg, Dorien , Zoetekouw, Lida , Banning, Martijn J. G. , Roeffen, Melissa , Hamel, Ben C. J. , Weaving, Linda , Ouvrier, Robert A. , Donald, Jennifer A. , Wevers, Ron A. , Christodoulou, John , van Bokhoven, Hans 
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society of Human Genetics 2007
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1950830/
https://ncbi.nlm.nih.gov/pubmed/17701896
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