✦ LIBER ✦

Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia

✍ Scribed by Piette P. Deutz-Terlouw; Monique Losekoot; Cora M. Aalfs; Raoul C.M. Hennekam; Egbert Bakker

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 509 KB
Volume: 11
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380110122

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Hypochondroplasia and stature within nor

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

✍ Christel Thauvin-Robinet; Laurence Faivre; Patricia Lewin; Jean-Vital De Monléon 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 144 KB 👁 1 views

Mutations in the fibroblast growth facto

Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data

✍ Tsai, Fuu-Jen; Tsai, Chang-Hai; Chang, Jan-Gowth; Wu, Jer-Yuarn 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 7 KB 👁 2 views

Identification of FGFR3 mutations in 28 achondroplasia patients, in 10 of 18 cases of hypochodroplasia and in both cases with type I TD, is reported here. To detect mutations of achondroplasia, both natural restriction site and amplification created restriction site (ACRS) were utilized. Mutation 11

A novel missense mutation Ile538Val in t

A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia

✍ G Grigelioniené; L Hagenäs; O Eklöf; L Neumeyer; PE Haereid; M Anvret 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 117 KB 👁 2 views

Hypochondroplasia and achondroplasia are skeletal dysplasias, characterised by autosomal dominant inheritance and disproportionate short stature, which occurs mainly due to growth failure of the extremities. Both dysplasias have been mapped to fibroblast growth factor receptor 3 (FGFR3) gene. For hy

Common mutations in the fibroblast growt

Common mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism

✍ Bonaventure, J.; Rousseau, F.; Legeai-Mallet, L.; Le Merrer, M.; Munnich, A.; Ma 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 37 KB 👁 2 views

The mapping of the achondroplasia locus to the short arm of chromosome 4 and the subsequent identification of a recurrent missense mutation (G380R) in the fibroblast growth factor receptor 3 (FGFR-3) gene has been followed by the detection of common FGFR-3 mutations in two clinically related disorde