Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population
Makaleler > Derleme · 2020
Yazarlar: HÜSEYİN ONAY, HİLMİ BOLAT, GONCA KILIÇ YILDIRIM, Engin Kose, Sema KALKAN UÇAR, SEMİH AŞIKOVALI, Feriştah Ferda ÖZKINAY, Mahmut ÇOKER
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2020, cilt 33, ss 1245-1250
Özet
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.