Nalaganje...
Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings
BACKGROUND: Biallelic CLN3 gene variants have been found in either juvenile‐onset neuronal ceroid lipofuscinosis (JNCL) or isolated retinal dystrophy. It has been reported that most JNCL patients carry a common 1.02‐kb deletion variant homozygously. Clinical characteristics of patients with bialleli...
Shranjeno v:
| izdano v: | Mol Genet Genomic Med |
|---|---|
| Main Authors: | , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
John Wiley and Sons Inc.
2020
|
| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7434607/ https://ncbi.nlm.nih.gov/pubmed/32441891 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1308 |
| Oznake: |
Označite
Brez oznak, prvi označite!
|