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C11 Two novel mutations in exon 4 of LDL-receptor gene causing familial hypercholesterolemia (FH) in northern Italy

✍ Scribed by S Bertolini; M Rolleri; G Trovatello; Masturzo; N Elicio; S Martini; L Previato; S Calandra


Book ID
119439604
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
154 KB
Volume
145
Category
Article
ISSN
0021-9150

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Identification of two LDL receptor mutat
✍ Tester F. Ashavaid; Altaf A. Kondkar; Kappiareth G. Nair πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 161 KB πŸ‘ 1 views

Familial hypercholesterolemia (FH) is a genetic disorder caused by numerous mutations in the low-density lipoprotein receptor (LDLR) gene. Mutational analyses of Indians in South Africa suggest the possibility of a high frequency of FH in India. This study aimed at identifying mutations in exons 3,