Distinct missense mutations of the FGFR3 Lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype

American Journal of Human Genetics

Volumn 67, Issue 6, 2000, Pages 1411-1421

  Bellus, Gary A ^a,b   Spector, Elaine B ^b   Speiser, Phyllis W ^c   Weaver, Christine A ^d   Garber, Anthony T ^e   Bryke, Christine R ^e   Israel, Jamie ^e   Rosengren, Sally S ^f   Webster, Melanie K ^g   Donoghue, Daniel J ^g   Francomano, Clair A ^h  

^a UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^b Children's Hospital Colorado   (United States)

^c NORTH SHORE UNIVERSITY HOSPITAL   (United States)

^d Carle Clinic   (United States)

^e University of Connecticut School of Medicine ^*  (United States)

^f UNIVERSITY OF CONNECTICUT SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR; PROTEIN TYROSINE KINASE;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; BONE DYSPLASIA; CHILD; CLINICAL ARTICLE; CODON; DISEASE SEVERITY; ENZYME ACTIVATION; FEMALE; HUMAN; MISSENSE MUTATION; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL;

ANIMALIA;

EID: 0033659625     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/316892     Document Type: Article

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