✦ LIBER ✦

An R223P mutation in EXT2 gene causes hereditary multiple exostoses

✍ Scribed by Yi-Ru Shi; Jer-Yuarn Wu; Fuu-Jen Tsai; Cheng-Chun Lee; Chang-Hai Tsai

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 13 KB
Volume: 15
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(200004)15:4<390::aid-humu35>3.0.co;2-e

No coin nor oath required. For personal study only.

✦ Synopsis

94°C for 5min; 35 cycles of 94°C for 20sec, 55°C for 30 sec and 72°C for 45 sec; and 72°C for 30 min.

📜 SIMILAR VOLUMES

A 651-665delinsTT mutation in EXT1 cause

A 651-665delinsTT mutation in EXT1 causes hereditary multiple exostoses

✍ Yi-Ru Shi; Jer-Yuarn Wu; Fuu-Jen Tsai; Cheng-Chun Lee; Chang-Hai Tsai 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB

## Amino acid change / trivial name: K218fsX247 Mutation / polymorphism type: Insertion-deletion resulting in a frameshift which causes a translational stop 30 codons downstream.

Molecular basis of multiple exostoses: m

Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes

✍ Wim Wuyts; Wim Van Hul 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 232 KB

Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by the formation of exostoses, which are cartilage-capped bony protuberances mainly located on long bones. Two genes, EXT1 and EXT2, and at least one other unidentified gene, are known to be involved in the formation

Interstitial deletion of 11 (P11.2p12):

Interstitial deletion of 11 (P11.2p12): A newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2)

✍ Potocki, Lorraine; Shaffer, Lisa G. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 25 KB 👁 1 views

An ALS2 gene mutation causes hereditary

An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred

✍ François Gros-Louis; Inge A. Meijer; Collette K. Hand; Marie-Pierre Dubé; Daune 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 94 KB 👁 1 views

Gene for multiple exostoses (EXT2) maps

Gene for multiple exostoses (EXT2) maps to 11(p11.2p12) and is deleted in patients with a contiguous gene syndrome

✍ Ligon, Azra H.; Potocki, Lorraine; Shaffer, Lisa G.; Stickens, Dominique; Evans, 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 6 KB 👁 1 views

Clonal karyotypic abnormalities of the h

Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromas

✍ Julia A. Bridge; Mari Nelson; Charlotte Örndal; Paramjit Bhatia; James R. Neff 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 141 KB 👁 2 views

## Background: Osteochondroma most frequently arises sporadically and as a solitary lesion, but also may arise as multiple lesions characterizing the autosomal dominant disorder hereditary multiple exostoses (hme) and the contiguous gene syndromes langer-giedion and defect-11 syndromes. hme is gene