A point mutation within CD45 exon A is the cause of variant CD45RA splicing in humans
✍ Scribed by Christian F. Zilch; Andrew M. Walker; Marcos Timón; Lindsey K. Goff; Diana L. Wallace; Peter C. L. Beverley
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 121 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0014-2980
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
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
The lariat branch point sequence (BPS) is crucial for splicing pre-mRNA even if BPS mutations have infrequently been reported in human disease. In two siblings with Niemann-Pick type C (NPC) disease we identified two mutations of the NPC1 gene: i) one in exon 20 (c.2932C>T) (p.R978C) previously repo