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Information for the Coordinates of Exons (ICE): a human splice sites database

✍ Scribed by Allen Chong; Guanglan Zhang; Vladimir B. Bajic


Book ID
116981280
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
692 KB
Volume
84
Category
Article
ISSN
0888-7543

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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