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Severely elevated serum triglycerides in a case of heterozygous familial hypercholesterolemia with the 317 cysteine to serine mutation in the LDL receptor gene

✍ Scribed by Junji Kobayashi; Hiroshi Mabuchi


Book ID
116431377
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
68 KB
Volume
16
Category
Article
ISSN
0953-6205

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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