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

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  2. Dr Andrew Morris
  3. Dr Sally Lynch
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
JournalNature Genetics
Year2004
Volume36
Issue4
Pages400-404
ISSN (print)1061-4036
ISSN (electronic)1546-1718
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PublisherNature Publishing Group
URLhttp://dx.doi.org/10.1038/ng1325
DOI10.1038/ng1325
PubMed id15052268
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