𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Disorder of cell cholesterol traffic in Niemann-Pick type C disease: Analysis of mutations of NPC-1 gene


Book ID
118631246
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
167 KB
Volume
3
Category
Article
ISSN
1567-5688

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Antisense oligonucleotide treatment for
✍ Laura RodrΓ­guez-Pascau; Maria Josep Coll; LluΓ―sa Vilageliu; Daniel Grinberg πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 498 KB πŸ‘ 1 views

Niemann-Pick type C disease is an autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. While most of the mutations are missense, a few splicing mutations have also been described. We identified and characterized a novel point mutation c.1554-1009G>A located in intron 9 o