Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec
Abstract Niemann–Pick disease type C (NPC) is a treatable autosomal recessive neurodegenerative condition which leads to a variety of progressive manifestations. Despite most cases being diagnosed at a young age, disease prevalence may be underestimated, especially in adults, and interpretation of N...
Enregistré dans:
| Auteurs principaux: | , , , |
|---|---|
| Format: | article |
| Langue: | EN |
| Publié: |
Nature Portfolio
2021
|
| Sujets: | |
| Accès en ligne: | https://doaj.org/article/6e50f1f900934a1696d0141ebe30f70e |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|
Soyez le premier à ajouter un commentaire!