๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

1342C mutation in Gaucher's disease

โœ Scribed by Ernest Beutler; Christos Kattamis; Jack Sipe; Mark Lipson


Book ID
118559000
Publisher
The Lancet
Year
1995
Tongue
English
Weight
150 KB
Volume
346
Category
Article
ISSN
0140-6736

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Detection of three rare (G377S, T134P an
โœ Alfonso J. Sarria; Pilar Giraldo; Juan I. Perez-Calvo; Miguel Pocovรญ ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 65 KB

To study glucocerebrosidase mutations causing Gaucher disease, we have screened 30 apparently unrelated patients for the presence of 7 previous described mutations. N370S (1226A>G) was the most common mutation (43 %), followed by L444P (1448T>C) (23 %). To identify the other unknown mutations, we sc

Mutation analysis in gaucher disease
โœ Beutler, Ernest ;Gelbart, Terri ๐Ÿ“‚ Article ๐Ÿ“… 1992 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 118 KB ๐Ÿ‘ 1 views