𝔖 Bobbio Scriptorium
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C08 The world-wide spectrum of LDL receptor gene mutations in patients with familial hypercholesterolemia (FH)

✍ Scribed by S Bertolini; S Calandra; KE Heath


Book ID
119439601
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
159 KB
Volume
145
Category
Article
ISSN
0021-9150

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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