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[93] A NOVEL ITALIAN NONSENSE MUTATION OF LDLR GENE CAUSING SEVERE HYPERCHOLESTEROLEMIA (FH PESCARA)

✍ Scribed by L. Pisciotta; R. Fresa; S. Airaldi; S. Bertolini

Book ID: 117639027
Publisher: Elsevier Science
Year: 2009
Tongue: English
Weight: 56 KB
Volume: 19
Category: Article
ISSN: 0939-4753
DOI: 10.1016/s0939-4753(09)70094-8

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Familial hypercholesterolemia (FH) is a genetic disorder caused by mutations in the low density lipoprotein (LDL)-receptor gene. We found a new mutation in the splice acceptor site of intron 1 of the LDL receptor gene, which is designated as 68-1 G->C according to the nomenclature suggested by , in