Wordt geladen...
Novel homozygous large deletion including the 5′ part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family
PURPOSE: To identify the genetic defect in a consanguineous Israeli Muslim Arab family with juvenile retinitis pigmentosa (RP). METHODS: DNA samples were collected from the index patient, her parents, her affected sister, and two non-affected siblings. Genome-wide linkage analysis with 250 K single...
Bewaard in:
| Gepubliceerd in: | Mol Vis |
|---|---|
| Hoofdauteurs: | , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Molecular Vision
2015
|
| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4360169/ https://ncbi.nlm.nih.gov/pubmed/25814828 |
| Tags: |
Voeg label toe
Geen labels, Wees de eerste die dit record labelt!
|