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Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia
PURPOSE: To identify the genetic defect in two Pakistani families with autosomal recessive achromatopsia. METHODS: Two families (RP26 and RP44) were originally diagnosed with retinal dystrophy based upon their medical history. To localize the causative genes in these families, homozygosity mapping w...
Gorde:
| Egile Nagusiak: | , , , , , , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Molecular Vision
2010
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2862243/ https://ncbi.nlm.nih.gov/pubmed/20454696 |
| Etiketak: |
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