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Novel deleterious mutation in MYO7A, TH and EVC2 in two Pakistani brothers with familial deafness
OBJECTIVE: In Pakistan, 74% of consanguineous marriages are among the first cousins. Continuity of consanguineous marriages over generations increases the risk of recessive diseases such as deafness. The objective of this study was to investigate genetic origin of Pakistani deaf brothers with parent...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Professional Medical Publications
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6408642/ https://www.ncbi.nlm.nih.gov/pubmed/30881389 http://dx.doi.org/10.12669/pjms.35.1.98 |