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Analysis of LDL Receptor Gene Mutations in Italian Patients With Homozygous Familial Hypercholesterolemia

✍ Scribed by Bertolini, S.; Cassanelli, S.; Garuti, R.; Ghisellini, M.; Simone, M. L.; Rolleri, M.; Masturzo, P.; Calandra, S.


Book ID
115503879
Publisher
Lippincott Williams and Wilkins
Year
1999
Tongue
English
Weight
704 KB
Volume
19
Category
Article
ISSN
1079-5642

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Spectrum of LDL receptor gene mutations
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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