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Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

Lookup NU author(s): Dr Andrew Morris, Dr Sally Lynch

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Author(s): Gissen P, Johnson CA, Morgan NV, Stapelbroek JM, Forshew T, Cooper WN, McKiernan PJ, Klomp LWJ, Morris AAM, Wraith JE, McClean P, Lynch SA, Thompson RJ, Lo B, Quarrell OW, Di Rocco M, Trembath RC, Mandel H, Wali S, Karet FE, Knisely AS, Houwen RHJ, Kelly DA, Maher ER

Publication type: Article

Journal: Nature Genetics

Year: 2004

Volume: 36

Issue: 4

Pages: 400-404

ISSN (print): 1061-4036

ISSN (electronic): 1546-1718

Publisher: Nature Publishing Group

URL: http://dx.doi.org/10.1038/ng1325

DOI: 10.1038/ng1325

PubMed id: 15052268


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