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A repeated element in the human lamin B2 gene covers most of an intron and reiterates the exon/intron junction

✍ Scribed by Elisa de Stanchina; Giovanni Perini; Giovanna Patrone; Adrian Suarez-Covarrubias; Silvano Riva; Giuseppe Biamonti


Book ID
117522507
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
674 KB
Volume
196
Category
Article
ISSN
0378-1119

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A novel point mutation in a splice accep
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Familial hypercholesterolemia (FH) is a genetic disorder caused by mutations in the low density lipoprotein (LDL)-receptor gene. We found a new mutation in the splice acceptor site of intron 1 of the LDL receptor gene, which is designated as 68-1 G->C according to the nomenclature suggested by , in