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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Detalles Bibliográficos
Autores principales: Murali, Chaya, Lu, James T., Jain, Mahim, Liu, David S., Lachman, Ralph, Gibbs, Richard A., Lee, Brendan H., Cohn, Daniel, Campeau, Philippe M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4088274/
https://www.ncbi.nlm.nih.gov/pubmed/25019053
http://dx.doi.org/10.1016/j.ymgmr.2014.04.004

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