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Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa
PURPOSE: To identify the genetic defects underlying retinitis pigmentosa (RP) in Pakistani families. METHODS: Genome-wide high-density single-nucleotide-polymorphism microarray analysis was performed using the DNA of nine affected individuals from two large families with multiple consanguineous marr...
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| Main Authors: | , , , , , , , , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Molecular Vision
2012
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3365133/ https://ncbi.nlm.nih.gov/pubmed/22665969 |
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