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:
CDG
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426914000317