Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia

Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia

Congenital Disorder of Glycosylation type Ig (ALG12-CDG) is part of a group of autosomal recessive conditions caused by deficiency of proteins involved in the assembly of dolichol-oligosaccharides used for protein N-glycosylation. In ALG12-CDG, the enzyme affected is encoded by the ALG12 gene. Affec...

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Bibliographic Details
Main Authors: Chaya Murali, James T. Lu, Mahim Jain, David S. Liu, Ralph Lachman, Richard A. Gibbs, Brendan H. Lee, Daniel Cohn, Philippe M. Campeau
Format: Article
Language:English
Published: Elsevier 2014-01-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Congenital Disorder of Glycosylation
ALG12
CDG-Ig
ALG12-CDG
Severe skeletal dysplasia
Whole exome sequencing
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426914000329

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