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...

Descripción completa

Detalles Bibliográficos
Autores principales: ten Kate, Leo P., Teeuw, Marieke, Henneman, Lidewij, Cornel, Martina C.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2010
Materias:
Short Communication
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

Internet

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

Ejemplares similares