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

Nature Genetics

Volumn 36, Issue 4, 2004, Pages 400-404

  Gissen, Paul ^a,b   Johnson, Colin A ^a   Morgan, Neil V ^a   Stapelbroek, Janneke M ^c   Forshew, Tim ^a   Cooper, Wendy N ^a   McKiernan, Patrick J ^b   Klomp, Leo W J ^c   Morris, Andrew A M ^d   Wraith, James E ^d   McClean, Patricia ^e   Lynch, Sally A ^f   Thompson, Richard J ^g   Lo, Bryan ^h   Quarrell, Oliver W ⁱ   Di Rocco, Maja ^j   Trembath, Richard C ^k   Mandel, Hanna ^l   Wali, S ^m   Karet, Fiona E ⁿ   Knisely, A S ^g   Houwen, Roderick H J ^c   Kelly, Deirdre A ^b   Maher, Eamonn R ^a   more..

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^e ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^f INSTITUTE OF HUMAN GENETICS   (United Kingdom)

^g KING S COLLEGE HOSPITAL   (United Kingdom)

^h HOSPITAL FOR SICK CHILDREN   (Canada)

ⁱ SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^j G GASLINI INSTITUTE   (Italy)

^k UNIVERSITY OF LEICESTER   (United Kingdom)

^l TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^m The General Directorate of Armed Forces Health Services   (Saudi Arabia)

ⁿ UNIVERSITY OF CAMBRIDGE   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA GLUTAMYLTRANSFERASE; GENE PRODUCT; SNARE PROTEIN; UNCLASSIFIED DRUG; VACUOLAR PROTEIN SORTING GENE;

ADULT; ARTHROGRYPOSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BILE DUCT DISEASE; BILE DUCT HYPOPLASIA; CHOLESTASIS; CHROMOSOME 15Q; COMPLEX FORMATION; CONTROLLED STUDY; EMBRYO; ENZYME ACTIVITY; FAILURE TO THRIVE; GENE; GENE MAPPING; GENE MUTATION; GERM LINE; HUMAN; HUMAN TISSUE; HYPOPLASIA; KIDNEY DYSFUNCTION; MEMBRANE FUSION; MEMBRANE VESICLE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN TARGETING; REGULATORY MECHANISM; SYNDROME; SYSTEMIC DISEASE; THROMBOCYTE DYSFUNCTION; VPS33 GENE; VPS33B GENE;

ARTHROGRYPOSIS; BLOTTING, WESTERN; CELL LINE; CHOLESTASIS; CHROMOSOMES, HUMAN, PAIR 15; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FEMALE; HUMANS; KIDNEY DISEASES; MALE; MEMBRANE FUSION; MEMBRANE PROTEINS; MUTATION; PLASMIDS; PROTEINS; SNARE PROTEINS; SYNDROME; VESICULAR TRANSPORT PROTEINS;

EID: 12144290067     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1325     Document Type: Article

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