๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

The GALT rush: High carrier frequency of an unusual deletion mutation of the GALT gene in the Ashkenazi population

โœ Scribed by Nurit Goldstein; Yoram Cohen; Ben Pode-Shakked; Ekaterina Sigalov; Bela Vilensky; Leah Peleg; Yair Anikster


Book ID
116989094
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
306 KB
Volume
102
Category
Article
ISSN
1096-7192

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Mutation analysis of the GALT gene in Cz
โœ Libor Kozรกk; Hana Francovรก; Lenka Fajkusovรก; Anna Pijรกckovรก; Jindriลกka Macku; Sy ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 48 KB ๐Ÿ‘ 2 views

A study of the galactose-1-phosphate uridyltransferase (GALT) gene from 37 unrelated galactosemia families is reported here. A total of 16 sequence variations in eleven mutated alleles was found. The two most common molecular defects were the mutations Q188R (46.0%) and K285N (25.7%). Six novel muta