𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutation analysis of hereditary multiple exostoses in the Chinese

✍ Scribed by L. Xu; J. Xia; H. Jiang; J. Zhou; H. Li; D. Wang; Q. Pan; Z. Long; C. Fan; H.-X. Deng

Publisher
Springer
Year
1999
Tongue
English
Weight
50 KB
Volume
105
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.

πŸ“œ 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 πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 16 KB πŸ‘ 1 views

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

An R223P mutation in EXT2 gene causes he
An R223P mutation in EXT2 gene causes hereditary multiple exostoses
✍ Yi-Ru Shi; Jer-Yuarn Wu; Fuu-Jen Tsai; Cheng-Chun Lee; Chang-Hai Tsai πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 13 KB πŸ‘ 2 views

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

Mutation frequencies ofEXT1 andEXT2 in 4
Mutation frequencies ofEXT1 andEXT2 in 43 Japanese families with hereditary multiple exostoses
✍ Seki, Hiroshi ;Kubota, Takeo ;Ikegawa, Shiro ;Haga, Nobuhiko ;Fujioka, Fumio ;Oh πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 86 KB

Hereditary multiple exostoses (EXT) is an autosomal dominant bone disease characterized by the formation of cartilage-capped prominences. EXT is genetically heterogeneous with at least four chromosomal loci. Among the four loci, the exostosis type 1 gene (EXT1) and type 2 gene (EXT2) have been clone