MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If
AUTOR(ES)
Schenk, Barbara
FONTE
American Society for Clinical Investigation
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=153781Documentos Relacionados
- MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If
- A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)
- Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)
- Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie
- A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome)