Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic.

Westphal, Vibeke

Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic. [electronic resource] - Human mutation Nov 2003 - 420-1 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

1098-1004

10.1002/humu.9195 doi


Apoptosis Regulatory Proteins
Calcium-Binding Proteins--genetics
Child, Preschool
Congenital Disorders of Glycosylation--diagnosis
Female
Gene Frequency
Glycosylation
Homozygote
Humans
Point Mutation