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Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families
OBJECTIVE: To identify disease-causing mutations in two consanguineous Pakistani families with fundus albipunctatus. METHODS: Affected individuals in both families underwent a thorough clinical examination including funduscopy and electroretinography. Blood samples were collected from all participat...
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| Autori principali: | , , , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2011
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3459316/ https://ncbi.nlm.nih.gov/pubmed/21447491 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjo.2010.189076 |
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