Adult phenotype and further phenotypic variability in SRD5A3-CDG.

KARA B., Ayhan O., Gokcay G. F., Basbogaoglu N., TOLUN A.

BMC medical genetics, cilt.15, ss.10, 2014 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 15
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1186/1471-2350-15-10
  • Dergi Adı: BMC medical genetics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.10
  • Anahtar Kelimeler: SRD5A3, SRD5A3, CDG, CDG, Glycosylation defect, HOMOZYGOUS FRAMESHIFT MUTATION, AUTOSOMAL RECESSIVE SYNDROME, CONGENITAL DISORDER, GLYCOSYLATION, ABNORMALITIES, CDG, POLYPRENOL, DOLICHOL, FAMILY
  • İstanbul Üniversitesi Adresli: Evet

Özet

Background: SRD5A3 is responsible for SRD5A3-CDG, a type of congenital disorder of glycosylation, and mutations have been reported in 15 children. All the mutations are recessive and truncating.