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Familial ligand-defective apolipoprotein B-100: detection, biochemical features and haplotype analysis of the R3531C mutation in the UK

✍ Scribed by Philip R Wenham; Bryony G Henderson; Michael D Penney; J.Peter Ashby; Peter W.H Rae; Simon W Walker


Book ID
119436280
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
349 KB
Volume
129
Category
Article
ISSN
0021-9150

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Familial ligand-defective apolipoprotein
✍ JP RabΓ¨s; M Varret; B Saint-Jore; D Erlich; G Jondeau; M Krempf; P Giraudet; C J πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 161 KB

## Communicated by Michel Goossens Familial ligand-defective apolipoprotein B-100 (FDB) is an autosomal dominant disorder leading to plasma LDL cholesterol elevation and coronary artery disease (CAD). Two specific mutations in the APOB gene-R3500Q and R3531C-induce FDB. We report an original metho