Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf Syndrome

We identified a homozygous missense mutation in the noncatalytic subunit (RAB3GAP2) of RAB3GAP that results in abnormal splicing in a family with congenital cataracts, hypogonadism, and mild mental retardation (Martsolf syndrome). Recently, mutations in the catalytic subunit of RAB3GAP (RAB3GAP1), a...

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Detalhes bibliográficos
Main Authors: Aligianis, Irene A., Morgan, Neil V., Mione, Marina, Johnson, Colin A., Rosser, Elisabeth, Hennekam, Raoul C., Adams, Gill, Trembath, Richard C., Pilz, Daniela T., Stoodley, Neil, Moore, Anthony T., Wilson, Steve, Maher, Eamonn R.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2006
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1424696/
https://ncbi.nlm.nih.gov/pubmed/16532399
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