✦ LIBER ✦

A Common Mutation in the Tyrosine Kinase Domain of the Fibroblast Growth Factor Receptor 3 Gene in Two Japanese Patients with Hypochondroplasia

✍ Scribed by Hiroshi KITOH; Yasukazu YAMADA; Haruko GOTO; Nobuaki OGASAWARA; Hiroshi NOGAMI

Book ID: 114825171
Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 428 KB
Volume: 36
Category: Article
ISSN: 0914-3505
DOI: 10.1111/j.1741-4520.1996.tb00323.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A recurrent mutation in the tyrosine kin

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

✍ Bellus, Gary A.; McIntosh, Iain; Smith, E. Anne; Aylsworth, Arthur S.; Kaitila, 📂 Article 📅 1995 🏛 Nature Publishing Group 🌐 English ⚖ 473 KB

Asn540Thr substitution in the fibroblast

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

✍ Piette P. Deutz-Terlouw; Monique Losekoot; Cora M. Aalfs; Raoul C.M. Hennekam; E 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 509 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

Identification of Mutations in the Gene

Identification of Mutations in the Gene Encoding the Fibroblast Growth Factor Receptor 3 in Japanese Patients with Achondroplasia

✍ Hiroshi KITOH; Hiroshi NOGAMI; Yasukazu YAMADA; Haruko GOTO; Nobuaki OGASAWARA 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 341 KB

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

Predominance of the mutation at 1138 of

Predominance of the mutation at 1138 of the cDNA for the fibroblast growth factor receptor 3 in Japanese patients with achondroplasia

✍ Hidefumi Tonoki; Jun Nakae; Toshihiro Tajima; Nozomi Shinohara; Junichi Monji; S 📂 Article 📅 1995 🏛 Nature Publishing Group 🌐 English ⚖ 184 KB