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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Detalles Bibliográficos
Autores principales: Bahena-Bahena, D., López-Valdez, J., Raymond, K., Salinas-Marín, R., Ortega-García, A., Ng, B.G., Freeze, H.H., Ruíz-García, M., Martínez-Duncker, I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121299/
https://www.ncbi.nlm.nih.gov/pubmed/27896089
http://dx.doi.org/10.1016/j.ymgmr.2014.04.003

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121299/
https://www.ncbi.nlm.nih.gov/pubmed/27896089
http://dx.doi.org/10.1016/j.ymgmr.2014.04.003

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