Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy

The majority of the genetic causes of autosomal-recessive (ar) cone-rod dystrophy (CRD) are currently unknown. A combined approach of homozygosity mapping and exome sequencing revealed a homozygous nonsense mutation (c.565C>T [p.Glu189(∗)]) in RAB28 in a German family with three siblings with arC...

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Autori principali: Roosing, Susanne, Rohrschneider, Klaus, Beryozkin, Avigail, Sharon, Dror, Weisschuh, Nicole, Staller, Jennifer, Kohl, Susanne, Zelinger, Lina, Peters, Theo A., Neveling, Kornelia, Strom, Tim M., van den Born, L. Ingeborgh, Hoyng, Carel B., Klaver, Caroline C.W., Roepman, Ronald, Wissinger, Bernd, Banin, Eyal, Cremers, Frans P.M., den Hollander, Anneke I.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2013
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3710761/
https://ncbi.nlm.nih.gov/pubmed/23746546
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.05.005
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