Adult phenotype and further phenotypic variability in SRD5A3-CDG.

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Kara B., Ayhan Ö., Gökçay G., Başboğaoğlu N., Tolun A.

BMC medical genetics, vol.15, pp.10, 2014 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 15
  • Publication Date: 2014
  • Doi Number: 10.1186/1471-2350-15-10
  • Journal Name: BMC medical genetics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.10
  • Keywords: SRD5A3, SRD5A3, CDG, CDG, Glycosylation defect, HOMOZYGOUS FRAMESHIFT MUTATION, AUTOSOMAL RECESSIVE SYNDROME, CONGENITAL DISORDER, GLYCOSYLATION, ABNORMALITIES, CDG, POLYPRENOL, DOLICHOL, FAMILY
  • Kocaeli University Affiliated: Yes