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- Title
Clinical utility gene card for: Familial hypobetalipoproteinaemia (APOB) - 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 Familial hypobetalipoproteinaemia (APOB) disease. Topics of the study include the analysis of mutations in missense variants affecting the amino terminal region of the apolipoprotein B, the validation of DNA sequencing of genomic-exonic DNA and the estimated frequency of the disease. The diagnostic features of Familial hypobetalipoproteinaemia disease are also presented.
- Subjects
FAMILIAL hypophosphatemia; FAMILIAL diseases; APOLIPOPROTEIN B; GENOMES; NUCLEOTIDE sequencing; DIAGNOSIS
- Publication
European Journal of Human Genetics, 2015, Vol 23, Issue 6, p1
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/ejhg.2014.225