Communicaced by Chrles 1. Epsrein We have investigated the procollagen, collagen, a2(I) mRNA, and DNA of a proband with type IV 01. The proband synthesized two a 2 ( I) chains, one with normal electrophoretic migration and one more rapidly migrating. The fast a 2 ( I ) chain was relatively retained
✦ LIBER ✦
A point mutation in the splice donor site of intron 7 in the αs2-casein encoding gene of the Mediterranean River buffalo results in an allele-specific exon skipping
✍ Scribed by G. Cosenza; A. Pauciullo; M. Feligini; A. Coletta; L. Colimoro; D. Di Berardino; L. Ramunno
- Book ID
- 108634768
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 86 KB
- Volume
- 40
- Category
- Article
- ISSN
- 0268-9146
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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