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- Title
Clinical utility gene card for: Abetalipoproteinaemia - Update 2014.
- Authors
Burnett, John R; Bell, Damon A; Hooper, Amanda J; Hegele, Robert A
- Abstract
The article presents a study which examines a clinical utility gene card for the diagnosis of abetalipoproteinaemia disease. Topics of the study include the analysis of mutations on missense, nonsense and splicing variants located throughout the gene, the validation of DNA sequencing of genomic-exonic and the estimated frequency of the disease. The diagnostic features of abetalipoproteinaemia disease are also presented.
- Subjects
FAMILIAL diseases; GENETIC disorder diagnosis; GENOMICS; MISSENSE mutation; NONSENSE mutation
- Publication
European Journal of Human Genetics, 2015, Vol 23, Issue 6, p1
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/ejhg.2014.224