Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis
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United States: Public Library of Science
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Language
English
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United States: Public Library of Science
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Retinal dystrophies (RD) are a group of hereditary diseases that lead to debilitating visual impairment and are usually transmitted as a Mendelian trait. Pathogenic mutations can occur in any of the 100 or more disease genes identified so far, making molecular diagnosis a rather laborious process. In this work we explored the use of whole exome seq...
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Full title
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis
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TN_cdi_plos_journals_1368620477
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1368620477
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0065574
