Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

Timal, Sharita

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. [electronic resource] - Human molecular genetics Oct 2012 - 4151-61 p. digital

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

1460-2083

10.1093/hmg/dds123 doi


Adolescent
Child
Child, Preschool
Cohort Studies
Congenital Disorders of Glycosylation--genetics
Exome
Female
Genome, Human
Glycosylation
Humans
Infant
Male
Molecular Sequence Data
Mutation
Pedigree
Proteins--genetics
Sequence Analysis, DNA
Young Adult