Achondroplasia is defined by recurrent G380R mutations of FGFR3

American Journal of Human Genetics

Volumn 56, Issue 2, 1995, Pages 368-373

  Bellus, G A ^a   Hefferon, T W ^a   De Luna, R I O ^a   Hecht, J T ^a   Horton, W A ^a   Machado, M ^a   Kaitila, I ^a   McIntosh, I ^a   Francomano, C A ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR; GUANOSINE; NUCLEOTIDE;

ACHONDROPLASIA; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CODON; GENE MUTATION; GENE ORDER; GENE SEQUENCE; GENETIC HETEROGENEITY; HUMAN; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN;

ACHONDROPLASIA; AMINO ACID SEQUENCE; ARGININE; BASE SEQUENCE; FIBROBLAST GROWTH FACTORS; GLYCINE; HUMAN; MOLECULAR SEQUENCE DATA; POINT MUTATION; POLYMERASE CHAIN REACTION; RECEPTORS, FIBROBLAST GROWTH FACTOR; SEQUENCE ANALYSIS, DNA; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0028890851     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (0)