Journal article
NAD deficiency, congenital malformations and niacin supplementation
- Abstract:
-
Background Congenital malformations can manifest as combinations of phenotypes that co-occur more often than expected by chance. In many such cases it has proved difficult to identify a genetic cause. We sought the genetic cause of cardiac, vertebral and renal defects, amongst others, in four unrelated patients. Methods Genomic sequencing was used to identify potentially pathogenic gene variants in four families. The variants were functionally tested using i... Expand abstract
- Publication status:
- Published
- Peer review status:
- Peer reviewed
Actions
Authors
Bibliographic Details
- Publisher:
- Massachusetts Medical Society Publisher's website
- Journal:
- New England Journal of Medicine Journal website
- Volume:
- 377
- Pages:
- 544-552
- Publication date:
- 2017-08-10
- Acceptance date:
- 2017-05-11
- DOI:
- EISSN:
-
1533-4406
- ISSN:
-
0028-4793
- Source identifiers:
-
695452
Item Description
- Pubs id:
-
pubs:695452
- UUID:
-
uuid:ebf539ae-44df-4d43-ba5c-9c9f5098f519
- Local pid:
- pubs:695452
- Deposit date:
- 2017-05-16
Terms of use
- Copyright holder:
- Massachusetts Medical Society
- Copyright date:
- 2017
- Notes:
- Copyright © 2017 Massachusetts Medical Society.
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