High incidence of co-existing factors significantly modifying the phenotype in patients with Fabry disease.

Koca S., TÜMER L., OKUR İ., ERTEN Y., Bakkaloglu S. A., BİBEROĞLU G., ...Daha Fazla

Gene, cilt.687, ss.280-288, 2019 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 687
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1016/j.gene.2018.11.054
  • Dergi Adı: Gene
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.280-288
  • Anahtar Kelimeler: Fabry disease, X-inactivation, Phenotype modifiers, Family screening, GALACTOSIDASE-A GENE, ALPHA-GALACTOSIDASE, NATURAL-HISTORY, MUTATIONS, DIAGNOSIS, MANIFESTATIONS, HOMOCYSTEINE, INVOLVEMENT, PREVALENCE, IMPACT
  • Gazi Üniversitesi Adresli: Evet

Özet

Fabry disease results from deficiency of the lysosomal enzyme alpha-galactosidase A.