Loading...
A Novel Mutation of VPS33B Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is an autosomal recessive disorder caused by mutations of the VPS33B encoding the vacuolar protein sorting 33B (VPS33B), which is involved in the intracellular protein sorting and vesicular trafficking. We report a rare case of ARC syndrome...
Na minha lista:
| Udgivet i: | Case Rep Genet |
|---|---|
| Main Authors: | , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Hindawi
2020
|
| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7532373/ https://ncbi.nlm.nih.gov/pubmed/33029437 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/8872294 |
| Tags: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|