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A Single Point Mutation in the Splice Donor Site of the Low-Density-Lipoprotein-Receptor Gene Produces Intron Read-Through, Exon-Skipped and Cryptic-Site-Utilized Transcripts

✍ Scribed by Takao Maruyama; Yasuko Miyake; Shoji Tajima; Tohru Funahashi; Yuji Matsuzawa; Akira Yamamoto


Book ID
118701447
Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
930 KB
Volume
232
Category
Article
ISSN
1432-1327

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A novel point mutation in a splice accep
✍ Takao Maruyama; Yasuko Miyake; Taku Yamamura; Shoji Tajima; Tohru Funahashi; Yuj πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 163 KB πŸ‘ 2 views

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