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A point mutation in splice donor site of intron 12 of LDLR receptor gene causing exon skipping, alternative splicing and read through: a high-frequency mutation in Japan

✍ Scribed by T. Maruvama; Y. Miyake; Y. Toyota; M. Harada-Shiba; T. Yamamura; A. Yamamoto


Book ID
118325126
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
308 KB
Volume
109
Category
Article
ISSN
0021-9150

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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