Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome

Human Mutation

Volumn 33, Issue 12, 2012, Pages 1656-1664

  Smith, Holly ^a,b,c   Galmes, Romain ^d   Gogolina, Ekaterina ^b,c,e   Straatman Iwanowska, Anna ^b,c   Reay, Kim ^f   Banushi, Blerida ^a,b,c   Bruce, Christopher K ^a   Cullinane, Andrew R ^g   Romero, Rene ^h   Chang, Richard ⁱ   Ackermann, Oanez ^j   Baumann, Clarisse ^k   Cangul, Hakan ^a   Cakmak Celik, Fatma ^l   Aygun, Canan ^l   Coward, Richard ^m   Dionisi Vici, Carlo ⁿ   Sibbles, Barbara ^o   Inward, Carol ^m   Ae Kim, Chong ^p   Klumperman, Judith ^d   Knisely, A S ^q   Watson, Steven P ^a   Gissen, Paul ^b,c,r   more..

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^e UNIVERSITY OF EDINBURGH   (United Kingdom)

^f BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^g NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^h Emory Children's Center   (United States)

ⁱ CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

^j BICÊTRE HOSPITAL   (France)

^k HÔPITAL ROBERT DEBRÉ   (France)

^l ONDOKUZ MAYIS UNIVERSITY   (Turkey)

^m BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

ⁿ BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^o SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^p UNIVERSITY OF SÃO PAULO   (Brazil)

^q KING S COLLEGE HOSPITAL   (United Kingdom)

^r GREAT ORMOND STREET HOSPITAL   (United Kingdom)

more..

Author keywords

Cholestasis; HOPS complex; Ostopenia; Recycling endosomes; VIPAR; VPS33B

Indexed keywords

COMPLEMENTARY DNA; PHENOBARBITAL; PROTEIN; RIFAMPICIN; UNCLASSIFIED DRUG; URSODEOXYCHOLIC ACID; VACUOLAR PROTEIN SORTING 33 HOMOLOG B; VPS33B INTERACTING PROTEIN APICAL BASOLATERAL POLARITY REGULATOR;

ARTHROGRYPOSIS; ARTHROGRYPOSIS RENAL DYSFUNCTION CHOLESTASIS; ARTHROGRYPOSIS RENAL DYSFUNCTION CHOLESTASIS SYNDROME; ARTICLE; CASE REPORT; CELLULAR DISTRIBUTION; CHILD; CHOLESTASIS; CONTROLLED STUDY; DNA DETERMINATION; FEMALE; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; IMMUNOBLOTTING; KIDNEY DYSFUNCTION; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ARTHROGRYPOSIS; CARRIER PROTEINS; CHILD, PRESCHOOL; CHOLESTASIS; FEMALE; GENETIC ASSOCIATION STUDIES; HEK293 CELLS; HETEROZYGOTE; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR DIAGNOSTIC TECHNIQUES; PROTEIN TRANSPORT; RENAL INSUFFICIENCY; RNA SPLICE SITES; SEQUENCE ANALYSIS, DNA; VESICULAR TRANSPORT PROTEINS;

EID: 84869090987     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22155     Document Type: Article

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