Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

The brachyolmias constitute a clinically and genetically heterogeneous group of skeletal dysplasias characterized by a short trunk, scoliosis and mild short stature(1). Here, we identify a locus for an autosomal dominant form of brachyolmia on chromosome 12q24.1–12q24.2. Among the genes in the genet...

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Hoofdauteurs: Rock, Matthew J, Prenen, Jean, Funari, Vincent A, Funari, Tara L, Merriman, Barry, Nelson, Stanley F, Lachman, Ralph S, Wilcox, William R, Reyno, Soraya, Quadrelli, Roberto, Vaglio, Alicia, Owsianik, Grzegorz, Janssens, Annelies, Voets, Thomas, Ikegawa, Shiro, Nagai, Toshiro, Rimoin, David L, Nilius, Bernd, Cohn, Daniel H
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2008
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3525077/
https://ncbi.nlm.nih.gov/pubmed/18587396
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.166
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