Hypochondroplasia and stature within normal limits: Another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene-Reference-Cited by-同舟云学术

Hypochondroplasia and stature within normal limits: Another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene

Published:2003-03-11 Issue:1 Volume:119A Page:81-84
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Thauvin-Robinet Christel,Faivre Laurence,Lewin Patricia,De Monléon Jean-Vital,François Catherine,Huet Frédéric,Couailler Jean-François,Campos-Xavier Ana Bélinda,Bonaventure Jacky,Le Merrer Martine

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference15 articles.

1. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia;Bellus;Nat Genet,1995

2. Hypochondroplasia: molecular analysis of the fibroblast growth factor 3 gene;Bellus;Ann N Y Acad Sci,1996

3. Distinct missense mutations of the FGFR3 Lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype;Bellus;Am J Hum Genet,2000

4. Common mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism;Bonaventure;Am J Med Genet,1996

5. Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosin kinase domain causing hypochondroplasia;Deutz-Terlouw;Hum Mutat,1998

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