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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2014
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Materias: | |
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 |