Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia

Acta Paediatrica, International Journal of Paediatrics

Volumn 89, Issue 9, 2000, Pages 1072-1076

  Grigelioniene G ^a   Eklof O ^a   Laurencikas, E ^a   Ollars, B ^a   Hertel, N T ^a   Dumanski, J P ^b   Hagenas L ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b Rigshospitalet   (Denmark)

Author keywords

Body proportions; Disproportional short stature; Fibroblast growth factor receptor hypochondroplasia; Mutational analysis

Indexed keywords

AMINO ACID; FIBROBLAST GROWTH FACTOR RECEPTOR; FIBROBLAST GROWTH FACTOR RECEPTOR 3; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DNA FLANKING REGION; DNA POLYMORPHISM; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HUMAN; HYPOCHONDROPLASIA; MALE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE;

ACHONDROPLASIA; ADULT; CHILD; FEMALE; FIBROBLAST GROWTH FACTORS; HUMAN; MALE; PEDIGREE; PHENOTYPE; POINT MUTATION; RECEPTORS, FIBROBLAST GROWTH FACTOR; SUPPORT, NON-U.S. GOV'T;

EID: 0033778874     PISSN: 08035253     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2000.tb03353.x     Document Type: Article

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