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Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population

Accurate prediction of the pathogenic effects of specific genotypes is important for the design and execution of clinical trials as well as for meaningful counseling of individual patients. However, for many autosomal recessive diseases, it can be difficult to deduce the relative pathogenic contribu...

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Detalles Bibliográficos
Autores principales: Schindler, Emily I., Nylen, Erik L., Ko, Audrey C., Affatigato, Louisa M., Heggen, Andrew C., Wang, Kai, Sheffield, Val C., Stone, Edwin M.
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2935854/
https://www.ncbi.nlm.nih.gov/pubmed/20647261
http://dx.doi.org/10.1093/hmg/ddq284