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A novel type of familial hypercholesterolemia: Double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene

✍ Scribed by Hayato Tada; Masa-aki Kawashiri; Rumiko Ohtani; Tohru Noguchi; Chiaki Nakanishi; Tetsuo Konno; Kenshi Hayashi; Atsushi Nohara; Akihiro Inazu; Junji Kobayashi; Hiroshi Mabuchi; Masakazu Yamagishi


Book ID
118423784
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
192 KB
Volume
219
Category
Article
ISSN
0021-9150

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πŸ“œ SIMILAR VOLUMES


Spectrum of LDL receptor gene mutations
✍ INM Day; RA Whittall; SD O'Dell; L Haddad; MK Bolla; V Gudnason; SE Humphries πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 409 KB πŸ‘ 2 views

Communicated by Alec J. Jeffreys Familial hypercholesterolemia by usual definition reflects mutations of the LDL-receptor gene. Extensive molecular characterization of mutations ascertained mainly through homozygotes (the Dallas collection) has been presented by Hobbs et al. (Hum Mutat 1:445-466, 19

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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