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Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis
BACKGROUND: 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 laboriou...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Public Library of Science
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3683009/ https://ncbi.nlm.nih.gov/pubmed/23940504 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0065574 |
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