✦ LIBER ✦

Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia

✍ Scribed by Naski, Michael C.; Wang, Qing; Xu, Jingsong; Ornitz, David M.

Book ID: 109916287
Publisher: Nature Publishing Group
Year: 1996
Tongue: English
Weight: 616 KB
Volume: 13
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng0696-233

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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

Thanatophoric dysplasia (types I and II)

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3

✍ Tavormina, Patricia L.; Shiang, Rita; Thompson, Leslie M.; Zhu, Ya-Zhen; Wilkin, 📂 Article 📅 1995 🏛 Nature Publishing Group 🌐 English ⚖ 951 KB

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

Fibroblast Growth Factor Receptor 3 Muta

Fibroblast Growth Factor Receptor 3 Mutations in Achondroplasia and Related Forms of Dwarfism

✍ William A. Horton; Gregory P. Lunstrum 📂 Article 📅 2002 🏛 Springer 🌐 English ⚖ 320 KB

Chinese achondroplasia is also defined b

Chinese achondroplasia is also defined by recurrent G380R mutations of the fibroblast growth factor receptor-3 gene

✍ Dau-Ming Niu; Kwang-Jen Hsiao; Nai-Hwei Wang; Lin-Show Chin; C.-H. Chen 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 27 KB

Prenatal diagnosis of thanatophoric dysp

Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results

✍ Hideaki Sawai; Shinji Komori; Akinori Ida; Takashi Henmi; Takefumi Bessho; Koji 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 180 KB 👁 2 views

Thanatophoric dysplasia (TD) is the most frequent form of neonatal lethal skeletal dysplasia. Recently, mutations in the fibroblast growth factor receptor 3 (FGFR3) gene that cause two subtypes of this disorder, type I (TDI) and type II (TDII), have been identified. This discovery has now made it po