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Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes
This short communication deals with the questions of how to calculate the expected proportion of compound heterozygous patients among affected offspring of consanguineous parents, and how, from an observed proportion of compound heterozygotes, to calculate both the proportion of homozygotes not iden...
| Autores principales: | , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Springer-Verlag
2010
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3063838/ https://www.ncbi.nlm.nih.gov/pubmed/21475666 http://dx.doi.org/10.1007/s12687-010-0002-4 |