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Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy
BACKGROUND: Consanguineous families have a relatively high prevalence of genetic disorders caused by bi-allelic mutations in recessive genes. This study aims to evaluate the effectiveness and efficiency of a consanguinity-based exome sequencing approach to capturing genetic mutations in inherited re...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8204521/ https://www.ncbi.nlm.nih.gov/pubmed/34130719 http://dx.doi.org/10.1186/s13023-021-01902-5 |