Lanean...
SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure
BACKGROUND: Synaptojanin 1 is encoded by the SYNJ1(MIM 604297) and plays a major role in phosphorylation and recycling of synaptic vesicles. Mutation of SYNJ1 is associated with two distinct phenotypes; a known homozygous missense mutation (p.Arg258Gln) associated with early‐onset Parkinson disease...
Gorde:
| Argitaratua izan da: | Mol Genet Genomic Med |
|---|---|
| Egile Nagusiak: | , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
John Wiley and Sons Inc.
2017
|
| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5823681/ https://ncbi.nlm.nih.gov/pubmed/29179256 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.341 |
| Etiketak: |
Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!
|