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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| Main Authors: | , |
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| Format: | Book |
| Published: |
Pediatric Neurology Briefs Publishers,
2016-04-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | 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 individuals with ALG1-CDG from 32 families. |
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| Item Description: | 1043-3155 2166-6482 10.15844/pedneurbriefs-30-2-5 |