Načítá se...
Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations
This study aimed to evaluate retinal structure in the early stage of Leber’s congenital amaurosis (LCA) caused by RPGRIP1 mutations. Four patients from two families were included. Case 1 was a 13-year-old girl, cases 2 and 3 were 7-year-old monozygotic twin brothers of case 1, and case 4 was a 17-ye...
Uloženo v:
| Vydáno v: | Hum Genome Var |
|---|---|
| Hlavní autoři: | , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Nature Publishing Group UK
2019
|
| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6804879/ https://ncbi.nlm.nih.gov/pubmed/31666973 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0064-8 |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!
|