Article
Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population.
Journal of pediatric endocrinology & metabolism : JPEM - 19 Aug 2020
Onay Hüseyin, Bolat Hilmi, Kılıç Yıldırım Gonca, Kose Engin, Kalkan Uçar Sema, Aşıkovalı Semih, Özkınay Ferda, Çoker Mahmut
Abstract excerpt
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. Methods In this article, we aimed to present the largest sample of GLA mutation spectrum including common and novel variants in Turkish population. GLA gene sequence analysis was performed on the subjects who applied to the department of medical...
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