Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein

Nature Genetics

Volumn 34, Issue 2, 2003, Pages 203-208

  McGregor, Lesley ^a   Makela, Ville ^a   Darling, Susan M ^a,b   Vrontou, Sofia ^c   Chalepakis, Georges ^c   Roberts, Catherine ^a   Smart, Nicola ^a   Rutland, Paul ^a   Prescott, Natalie ^a   Hopkins, Jason ^b   Bentley, Elizabeth ^b   Shaw, Alison ^b   Roberts, Emma ^d   Mueller, Robert ^d   Jadeja, Shalini ^a   Philip, Nicole ^e   Nelson, John ^f   Francannet, Christine ^g   Perez Aytes, Antonio ^h   Megarbane, Andre ⁱ   Kerr, Bronwyn ^j   Wainwright, Brandon ^k   Woolf, Adrian S ^a   Winter, Robin M ^a   Scambler, Peter J ^a   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF CRETE   (Greece)

^d ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^e TIMONE HOSPITAL   (France)

^f KING EDWARD MEMORIAL HOSPITAL   (Australia)

^g UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

^h HOSPITAL INFANTIL LA FE   (Spain)

ⁱ SAINT JOSEPH UNIVERSITY   (Lebanon)

^j ST MARY S HOSPITAL   (United Kingdom)

^k UNIVERSITY OF QUEENSLAND   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN; PROTEIN FRAS1; SCLEROPROTEIN; UNCLASSIFIED DRUG;

AMINO TERMINAL SEQUENCE; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CHROMOSOME 4Q; CONTROLLED STUDY; EXTRACELLULAR MATRIX; FEMALE; FRASER SYNDROME; GENE LOCUS; GENE MUTATION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN MOTIF; SEA URCHIN; SEQUENCE HOMOLOGY;

ANIMALS; BASE SEQUENCE; BLISTER; CHROMOSOMES, HUMAN, PAIR 4; DENYS-DRASH SYNDROME; DISEASE MODELS, ANIMAL; DNA; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; HUMANS; MALE; MICE; MICE, INBRED STRAINS; MICE, MUTANT STRAINS; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE;

ANIMALIA; ECHINOIDEA;

EID: 0037872680     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1142     Document Type: Article

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