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Identification of a 76-year-old patient with compound heterozygous Familial Hypercholesterolemia by haplotype analysis of the LDL receptor gene

✍ Scribed by Fischer, H. J. ;Schuster, H. ;Keller, C. ;Wolfram, G. ;Zöllner, N.

Publisher
Springer-Verlag
Year
1991
Tongue
English
Weight
478 KB
Volume
69
Category
Article
ISSN
1432-1440

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During a survey of Italian patients with familial hypercholesterolemia (FH), we identified an FH heterozygous patient with a gross rearrangement of the low density lipoprotein (LDL) receptor gene. Southern blot analysis of the proband's DNA digested with restriction enzymes PvuII, BamHI, BglII and X