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., ...Daha Fazla

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.33, sa.10, ss.1245-1250, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 33 Sayı: 10
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1515/jpem-2020-0056
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.1245-1250
  • Anahtar Kelimeler: alpha-galactosidase, Fabry disease, GLA, FABRY-DISEASE, A GENE, VARIANT, PHENOTYPE, IDENTIFICATION, FREQUENCY, FAMILIES
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

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.