Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

Gerodermia osteodysplastica (GO) is an autosomal recessive disorder characterized by wrinkly skin and osteoporosis. Here we demonstrate that GO is caused by loss-of-function mutations in SCYL1BP1, which is expressed at high levels in skin and osteoblasts. The protein localizes to the Golgi apparatus...

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Bibliografiska uppgifter
Huvudupphovsmän: Hennies, Hans Christian, Kornak, Uwe, Zhang, Haikuo, Egerer, Johannes, Zhang, Xin, Seifert, Wenke, Kühnisch, Jirko, Budde, Birgit, Nätebus, Marc, Brancati, Francesco, Wilcox, William R., Müller, Dietmar, Kaplan, Paige B., Rajab, Anna, Zampino, Giuseppe, Fodale, Valentina, Dallapiccola, Bruno, Newman, William, Metcalfe, Kay, Clayton-Smith, Jill, Tassabehji, May, Steinmann, Beat, Barr, Francis A., Nürnberg, Peter, Wieacker, Peter, Mundlos, Stefan
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2008
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3122266/
https://ncbi.nlm.nih.gov/pubmed/18997784
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.252
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