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Defective processing and binding of low-density lipoprotein receptors in fibroblasts from a familial hypercholesterolaemic subject

✍ Scribed by Brian L. KNIGHT; Sean J. P. GAVIGAN; Anne K. SOUTAR; Dilip D. PATEL


Book ID
115126170
Publisher
John Wiley and Sons
Year
1989
Tongue
English
Weight
654 KB
Volume
179
Category
Article
ISSN
1432-1327

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Afrikaners with familial hypercholesterolaemia (FH) were screened for the presence of three point mutations in the low density lipoprotein receptor gene that were previously described as being relatively common in this population. The prevalence and distribution of the mutations were compared in 27