Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

Mental retardation (MR) is the most frequent handicap among children and young adults. Although a large proportion of X-linked MR genes have been identified, only four genes responsible for autosomal-recessive nonsyndromic MR (AR-NSMR) have been described so far. Here, we report on two genes involve...

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Hlavní autoři: Molinari, Florence, Foulquier, François, Tarpey, Patrick S., Morelle, Willy, Boissel, Sarah, Teague, Jon, Edkins, Sarah, Futreal, P. Andrew, Stratton, Michael R., Turner, Gillian, Matthijs, Gert, Gecz, Jozef, Munnich, Arnold, Colleaux, Laurence
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Human Genetics 2008
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2427205/
https://ncbi.nlm.nih.gov/pubmed/18455129
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.03.021
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