ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA

ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA

Patients with ARCL-IIA harbor mutations in ATP6V0A2 that codes for an organelle proton pump. The ARCL-IIA syndrome characteristically presents a combined glycosylation defect affecting N-linked and O-linked glycosylations, differentiating it from other cutis laxa syndromes and classifying it as a Co...

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Bibliographic Details
Main Authors: D. Bahena-Bahena, J. López-Valdez, K. Raymond, R. Salinas-Marín, A. Ortega-García, B.G. Ng, H.H. Freeze, M. Ruíz-García, I. Martínez-Duncker
Format: Article
Language:English
Published: Elsevier 2014-01-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Laxa
Glycosylation
ATP6V0A2
CDG
ARCL
Hispanic
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426914000317

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