𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Investigation of a novel defect in patients with familial hypercholesterolaemia (FH): Homozygosity analysis of genetic markers in an affected inbred family

✍ Scribed by Eden, E.; Burden, J.; Sun, X.-M.; Soutar, A.K.


Book ID
123253244
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
144 KB
Volume
151
Category
Article
ISSN
0021-9150

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Analysis of a genetic defect in the TATA
✍ Stephan Niemann; Wendy J. Broom; Robert H. Brown Jr. πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 118 KB

## Abstract We report a patient with autosomal‐dominant amyotrophic lateral sclerosis (ALS) and a sequence variation in the __SOD1__ promoter region, located in the conserved TATA box motif (TATAAAβ†’TGTAAA). Functional promoter studies of this variant in an in vitro system showed moderate reduction