Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population
Articles > Review · 2020
Authors: HÜSEYİN ONAY, HİLMİ BOLAT, GONCA KILIÇ YILDIRIM, Engin Kose, Sema KALKAN UÇAR, SEMİH AŞIKOVALI, Feriştah Ferda ÖZKINAY, Mahmut ÇOKER
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, Journal Indexed in SCI Expanded, International, 2020, vol 33, pp 1245-1250
Summary
Objectives: Fabry disease (FD, OMIM #301500) is a rare and progressive X-linked lysosomal storage disorder. FD is caused by mutations in the GLA gene on chromosome Xq22.