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

Onay, Huseyin; Bolat, Hilmi; KILIÇ YILDIRIM, GONCA; KÖSE, ENGİN; Ucar, Sema; AŞIKOVALI, SEMİH; Ozkinay, Ferda; ÇOKER, MAHMUT

doi:10.1515/jpem-2020-0056

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., KÖSE E., Ucar S. K., AŞIKOVALI S., ...Daha Fazla

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

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
Ankara 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.