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...
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Book |
| Published: |
Pediatric Neurology Briefs Publishers,
2016-04-01T00:00:00Z.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|