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Recurrent and novel LDL-receptor gene mutations causing heterozygote familial hypercholesterolemia in La Habana

✍ Scribed by E. Perreira; R. Ferrera; B. Hermelin; C. Bernard; V. Bertrand; P. Benlian; G. Bereziat


Book ID
118325210
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
156 KB
Volume
109
Category
Article
ISSN
0021-9150

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We used the denaturing gradient gel electrophoresis (DGGE) method to investigate 120 Japanese patients with familial hypercholesterolemia (FH) for mutations in the promoter region and the 18 exons and their flanking intron sequence of the low density lipoprotein (LDL) receptor gene. Fourteen aberran