Title

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

Document Type

Journal Article

Publication Date

7-11-2013

Student Program

IBS

Journal

American journal of human genetics

Volume

93

Issue

1

Inclusive Pages

29-41

DOI

10.1016/j.ajhg.2013.05.009

Keywords

Animals; Child, Preschool; DNA Mutational Analysis; Dystroglycans; Eye Abnormalities; Female; Fibroblasts; Genetic Association Studies; Glycosylation; Guanosine Diphosphate Mannose; Heterozygote; Humans; Infant; Infant, Newborn; Male; Muscle, Skeletal; Muscular Dystrophies, Limb-Girdle; Mutation, Missense; Nucleotidyltransferases; Zebrafish

Peer Reviewed

1