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Whole Exome Sequencing Reveals Genetic Predisposition in a Large Family with Retinitis Pigmentosa
Next-generation sequencing has become more widely used to reveal genetic defect in monogenic disorders. Retinitis pigmentosa (RP), the leading cause of hereditary blindness worldwide, has been attributed to more than 67 disease-causing genes. Due to the extreme genetic heterogeneity, using general m...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Hindawi Limited
2014-01-01
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| Colecção: | BioMed Research International |
| Acesso em linha: | http://dx.doi.org/10.1155/2014/302487 |
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