Loss-of-function mutations in RAB18 cause Warburg micro syndrome

American Journal of Human Genetics

Volumn 88, Issue 4, 2011, Pages 499-507

  Bem, Danai ^a   Yoshimura, Shin Ichiro ^b,j   Nunes Bastos, Ricardo ^b   Bond, Frances F ^c   Kurian, Manju A ^a,k   Rahman, Fatima ^a   Handley, Mark T W ^d   Hadzhiev, Yavor ^a   Masood, Imran ^e   Straatman Iwanowska, Ania A ^a,k   Cullinane, Andrew R ^a,l   McNeill, Alisdair ^a,c,m   Pasha, Shanaz S ^a   Kirby, Gail A ^a   Foster, Katharine ^f   Ahmed, Zubair ^a   Morton, Jenny E ^c   Williams, Denise ^c   Graham, John M ^g   Dobyns, William B ^h   Burglen, Lydie ⁱ   Ainsworth, John R ^f   Gissen, Paul ^a,k   Müller, Ferenc ^a   Maher, Eamonn R ^a,c   Barr, Francis A ^b   Aligianis, Irene A ^a,c,d   more..

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b UNIVERSITY OF LIVERPOOL   (United Kingdom)

^c BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^d UNIVERSITY OF EDINBURGH   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^g CEDARS SINAI MEDICAL CENTER   (United States)

^h UNIVERSITY OF CHICAGO   (United States)

ⁱ ARMAND TROUSSEAU HOSPITAL   (France)

^j OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^k UNIVERSITY COLLEGE LONDON   (United Kingdom)

^l NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^m UNIVERSITY COLLEGE LONDON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GUANINE; PROTEIN;

ARTICLE; BINDING ASSAY; EXON; FAMILY; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE DELETION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; LOSS OF FUNCTION MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN BINDING; STOP CODON; WALKER WARBURG SYNDROME; ZEBRA FISH;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CATARACT; CODON, TERMINATOR; CONSANGUINITY; CORNEA; DNA MUTATIONAL ANALYSIS; FEMALE; FOUNDER EFFECT; HAPLOTYPES; HUMANS; HYPOGONADISM; MALE; MENTAL RETARDATION; MICROCEPHALY; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; MUTATION, MISSENSE; OPTIC ATROPHY; PEDIGREE; PHENOTYPE; PROTEIN BINDING; RAB GTP-BINDING PROTEINS; RAB3 GTP-BINDING PROTEINS; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID;

DANIO RERIO;

EID: 79953728451     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.03.012     Document Type: Article

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