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Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia

✍ Scribed by H.K Jensen; L.G Jensen; H Meinertz; P.S Hansen; N Gregersen; O Færgeman


Book ID
119438477
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
126 KB
Volume
146
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 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 409 KB 👁 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