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Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia

✍ Scribed by Trond P. Leren; Kari Solberg; Olaug K. Rødningen; Serena Tonstad; Leiv Ose


Publisher
Springer
Year
1995
Tongue
English
Weight
206 KB
Volume
96
Category
Article
ISSN
0340-6717

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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