Trp29Ocys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome

Human Genetics

Volumn 99, Issue 5, 1997, Pages 602-606

  Tartaglia, Marco ^a   Valeri, Sonia ^a   Velardi, Francesco ^b   Di Rocco, Concezio ^b   Battaglia, Piero A ^a  

^a ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; FIBROBLAST GROWTH FACTOR RECEPTOR; TRYPTOPHAN; DNA; FGFR1 PROTEIN, HUMAN; FGFR2 PROTEIN, HUMAN; FIBROBLAST GROWTH FACTOR RECEPTOR 1; FIBROBLAST GROWTH FACTOR RECEPTOR 2; PROTEIN TYROSINE KINASE;

ACROCEPHALOSYNDACTYLY; ARTICLE; BONE DISEASE; CASE REPORT; CLINICAL FEATURE; CRANIOFACIAL SYNOSTOSIS; CROUZON SYNDROME; DIMERIZATION; EXON; FOOT MALFORMATION; GENE MUTATION; GENETIC TRANSDUCTION; HAND MALFORMATION; HUMAN; MALE; MISSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; AMINO ACID SEQUENCE; BLOOD; GENETICS; LEUKOCYTE; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

ACROCEPHALOSYNDACTYLIA; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD, PRESCHOOL; CYSTEINE; DNA; EXONS; HUMANS; LEUKOCYTES; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 1; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTORS, FIBROBLAST GROWTH FACTOR; TRYPTOPHAN;

EID: 0030609942     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050413     Document Type: Article

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