Lataa...
Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations
PURPOSE: Autosomal recessive retinitis pigmentosa (arRP) is a genetically heterogeneous disease resulting in progressive loss of photoreceptors that leads to blindness. To date, 36 genes are known to cause arRP, rendering the molecular diagnosis a challenge. The aim of this study was to use homozygo...
Tallennettuna:
| Päätekijät: | , , , , , , |
|---|---|
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Molecular Vision
2013
|
| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3857159/ https://ncbi.nlm.nih.gov/pubmed/24339724 |
| Tagit: |
Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!
|