Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs

Nature Genetics

Volumn 37, Issue 5, 2005, Pages 520-525

  Jadeja, Shalini ^a   Smyth, Ian ^a,b   Pitera, Jolanta E ^a   Taylor, Martin S ^c   Van Haelst, Mieke ^a   Bentley, Elizabeth ^d   McGregor, Lesley ^a   Hopkins, Jason ^d   Chalepakis, Georges ^e   Philip, Nicole ^f   Aytes, Antonio Perez ^g   Watt, Fiona M ^b   Darling, Susan M ^d   Jackson, Ian ^h   Woolf, Adrian S ^a   Scambler, Peter J ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b CRUK London Research Institute   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e UNIVERSITY OF CRETE   (Greece)

^f TIMONE HOSPITAL   (France)

^g HOSPITAL INFANTIL LA FE   (Spain)

^h WESTERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CADHERIN; FRAS1 PROTEIN; SCLEROPROTEIN; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CALCIUM BINDING; CASE REPORT; CHILD; CONTROLLED STUDY; CYST; EMBRYO; EMBRYO DEVELOPMENT; FETUS; FRAS1 GENE; FRASER SYNDROME; FREM2 GENE; GENE; GENE EXPRESSION; GENE MAPPING; GENETIC HETEROGENEITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; KIDNEY DEVELOPMENT; KIDNEY EPITHELIUM; MISSENSE MUTATION; MOUSE; MYELENCEPHALIC BLEB; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN MOTIF;

ANIMALS; BLISTER; EXTRACELLULAR MATRIX PROTEINS; EYELIDS; GENITALIA; HUMANS; MEDULLA OBLONGATA; MICE; MOLECULAR SEQUENCE DATA; SYNDACTYLY;

EID: 20944448235     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1549     Document Type: Article

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