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A tetranucleotide insertion in exon 8 of LDL-receptor gene in an Italian FH patient

✍ Scribed by P. Rampa; C. Motti; G. Trovatello; S. Bernardini; R. Massoud; G. Fucci; G. Federici; S. Calandra; S. Bertolini; C. Cortese


Book ID
119436624
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
340 KB
Volume
135
Category
Article
ISSN
0021-9150

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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