Clinical and Molecular Characterization of ALG1-CDG

Investigators from the Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California and a large study group utilized a combination of exome sequencing, targeted gene panels, and Sanger sequencing to identify thirty-one pathogenic variants in thirty-nine affected i...

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Detalles Bibliográficos
Autores principales: Dhamija, Radhika, Chambers, Chelsea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pediatric Neurology Briefs Publishers 2016
Materias:
Genetic Disorders
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821836/
https://www.ncbi.nlm.nih.gov/pubmed/27053910
http://dx.doi.org/10.15844/pedneurbriefs-30-2-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821836/
https://www.ncbi.nlm.nih.gov/pubmed/27053910
http://dx.doi.org/10.15844/pedneurbriefs-30-2-5

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