Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population


ONAY H. , Bolat H. , KILIÇ YILDIRIM G., Kose E., Ucar S. K. , AŞIKOVALI S. , ...More

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.33, no.10, pp.1245-1250, 2020 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Review
  • Volume: 33 Issue: 10
  • Publication Date: 2020
  • Doi Number: 10.1515/jpem-2020-0056
  • Title of Journal : JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Page Numbers: pp.1245-1250

Abstract

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.