๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Germline mutations in theEXT1andEXT2genes in Korean patients with hereditary multiple exostoses

โœ Scribed by Kyu Joo Park; K.-H. Shin; J.-L. Ku; Tae-Joon Cho; Sang Hoon Lee; In Ho Choi; Christophe Phillipe; Anthony P. Monaco; Daniel E. Porter; J.-G. Park; C. Philippe


Publisher
Nature Publishing Group
Year
1999
Tongue
English
Weight
145 KB
Volume
44
Category
Article
ISSN
1435-232X

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Mutation frequencies ofEXT1 andEXT2 in 4
โœ Seki, Hiroshi ;Kubota, Takeo ;Ikegawa, Shiro ;Haga, Nobuhiko ;Fujioka, Fumio ;Oh ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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

Germline mutations in the RB1 gene in pa
โœ Zaoxia Liu; Yue Song; Britta Bia; John K. Cowell ๐Ÿ“‚ Article ๐Ÿ“… 1995 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 664 KB

We have analyzed the 27 exons and the promoter region of the RBI gene in familial or sporadic bilateral retinoblastoma by using single-strand conformation polymorphism analysis. For improvement over previous studies, a new set of primers has been designed, which allow for amplification of the coding