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

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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 (SCI-Expanded)

• Publication Type: Article / Review
• Volume: 33 Issue: 10
• Publication Date: 2020
• Doi Number: 10.1515/jpem-2020-0056
• Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
• Page Numbers: pp.1245-1250
• Keywords: alpha-galactosidase, Fabry disease, GLA, FABRY-DISEASE, A GENE, VARIANT, PHENOTYPE, IDENTIFICATION, FREQUENCY, FAMILIES
• Eskisehir Osmangazi University Affiliated: Yes

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.