SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features

Increasing numbers of congenital disorders of glycosylation (CDG) have been reported recently resulting in an expansion of the phenotypes associated with this group of disorders. SRD5A3 codes for polyprenol reductase which converts polyprenol to dolichol. This is a major pathway for dolichol biosynt...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Wheeler, Patricia G., Ng, Bobby G., Sanford, Laura, Sutton, V. Reid, Bartholomew, Dennis W., Pastore, Matthew T., Bamshad, Michael J., Kircher, Martin, Buckingham, Kati J., Nickerson, Deborah A., Shendure, Jay, Freeze, Hudson H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5115938/
https://ncbi.nlm.nih.gov/pubmed/27480077
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37875
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