학술논문
Assessment of carriers' frequency of a novel MRE11 mutation responsible for the rare ataxia telangiectasia-like disorder
Document Type
Academic Journal
Source
Genetic Testing. September 2008, Vol. 12 Issue 3, p387, 3 p.
Subject
Language
English
ISSN
1090-6576
Abstract
Ataxia telangiectasia-like disorder (ATLD) is a very rare variant of ataxia telangiectasia. ATLD is caused by mutations in MRE11 gene. Recently, a new missense mutation, a G-to-C change at nucleotide [...]