Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism

American Journal of Medical Genetics

Volumn 63, Issue 1, 1996, Pages 148-154

  Bonaventure, J ^a   Rousseau, F ^a   Legeai Mallet, L ^a   Le Merrer, M ^a   Munnich, A ^a   Maroteaux, P ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

achondroplasia; FGFR 3; hypochondroplasia; thanatophoric dysplasia; tyrosine kinase

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR; MEMBRANE RECEPTOR;

ACHONDROPLASIA; ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; ENZYME ACTIVITY; GENE AMPLIFICATION; GENE EXPRESSION; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; THANATOPHORIC DWARFISM;

ACHONDROPLASIA; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BONE AND BONES; DNA PRIMERS; EXONS; FETUS; FIBROBLAST GROWTH FACTORS; GROWTH PLATE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOCHONDRODYSPLASIAS; POLYMERASE CHAIN REACTION; PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; RECEPTORS, FIBROBLAST GROWTH FACTOR; SKIN; THANATOPHORIC DYSPLASIA;

EID: 0029912958     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960503)63:1<148::AID-AJMG26>3.0.CO;2-N     Document Type: Article

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