Your browser doesn't support javascript.
loading
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
Gissen, Paul; Johnson, Colin A; Morgan, Neil V; Stapelbroek, Janneke M; Forshew, Tim; Cooper, Wendy N; McKiernan, Patrick J; Klomp, Leo W J; Morris, Andrew A M; Wraith, James E; McClean, Patricia; Lynch, Sally A; Thompson, Richard J; Lo, Bryan; Quarrell, Oliver W; Di Rocco, Maja; Trembath, Richard C; Mandel, Hanna; Wali, S; Karet, Fiona E; Knisely, A S; Houwen, Roderick H J; Kelly, Deirdre A; Maher, Eamonn R.
Affiliation
  • Gissen P; Section of Medical and Molecular Genetics, University of Birmingham, and Liver Unit, Birmingham Children's Hospital, UK.
Nat Genet ; 36(4): 400-4, 2004 Apr.
Article in En | MEDLINE | ID: mdl-15052268
Subject(s)
Search on Google
Print
XML
PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Arthrogryposis / Proteins / Cholestasis / Vesicular Transport Proteins / Kidney Diseases / Membrane Fusion / Membrane Proteins / Mutation Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2004 Type: Article Affiliation country: United kingdom
Search on Google
Print
XML
PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Arthrogryposis / Proteins / Cholestasis / Vesicular Transport Proteins / Kidney Diseases / Membrane Fusion / Membrane Proteins / Mutation Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2004 Type: Article Affiliation country: United kingdom