Asn540THr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Deutz Terlouw, Piette P ^a   Losekoot, Monique ^a   Aalfs, Cora M ^b   Hennekam, Raoul CM ^b   Bakker, Egbert ^a  

^a LEIDEN UNIVERSITY   (Netherlands)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FGFR3 PROTEIN, HUMAN; FIBROBLAST GROWTH FACTOR RECEPTOR; FIBROBLAST GROWTH FACTOR RECEPTOR 3; PROTEIN TYROSINE KINASE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; BINDING SITE; CHEMISTRY; CHONDRODYSPLASIA; FAMILY HEALTH; FEMALE; GENETICS; HUMAN; MALE; METABOLISM; NUCLEOTIDE SEQUENCE; PEDIGREE; POINT MUTATION; SINGLE STRAND CONFORMATION POLYMORPHISM; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; DNA DETERMINATION; DNA SEQUENCE; GENE AMPLIFICATION; GENE MUTATION; HYPOCHONDROPLASIA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; BINDING SITES; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; MALE; OSTEOCHONDRODYSPLASIAS; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; RECEPTORS, FIBROBLAST GROWTH FACTOR;

EID: 0031985543     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110122     Document Type: Article

References (18)

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