GLA Nonsense Mutation (c.485G>A) in a Three-Generation Family with Fabry’s Disease
Gabriela Sarca, Cristina Dragomir, Adriana Stan & Emilia Severin · Journal of Advances in Medicine and Medical Research · 2015
Background: GLA nonsense mutations seem to be associated with more severe clinical phenotype. Aims: Main aims were to identify the disease-causing mutation, to screen high risk family members and to predict the severity of clinical phenotype and age of onset based on genotype-phe...
Open access
Research Article
10.9734/BJMMR/2016/21432