MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

Antzeko izenburuak

• MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If
  nork: Schenk, Barbara, et al.
  Argitaratua: (2001)
• Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie
  nork: Imbach, Timo, et al.
  Argitaratua: (2000)
• Congenital disorders of glycosylation: other causes of ichthyosis
  nork: Jaeken, Jaak, et al.
  Argitaratua: (2014)
• Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation
  nork: Jaeken, Jaak, et al.
  Argitaratua: (2015)
• Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation
  nork: Jaeken, Jaak, et al.
  Argitaratua: (2015)