A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly

Although autosomal genes are increasingly recognized as important causes of intellectual disability, very few of them are known. We identified a genetic locus for autosomal-recessive nonsyndromic intellectual disability associated with variable postnatal microcephaly through homozygosity mapping of...

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Hlavní autoři: Mochida, Ganeshwaran H., Mahajnah, Muhammad, Hill, Anthony D., Basel-Vanagaite, Lina, Gleason, Danielle, Hill, R. Sean, Bodell, Adria, Crosier, Moira, Straussberg, Rachel, Walsh, Christopher A.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2009
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2790576/
https://ncbi.nlm.nih.gov/pubmed/20004763
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.10.027
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