Article
Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population.
Human molecular genetics - 1 Oct 2010
Schindler Emily I, Nylen Erik L, Ko Audrey C, Affatigato Louisa M, Heggen Andrew C, Wang Kai, Sheffield Val C, Stone Edwin M
Abstract excerpt
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 contr...
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