Article
Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophy.
European journal of human genetics : EJHG - 1 Dec 2006
Ducroq Dominique, Shalev Stavit, Habib Aviv, Munnich Arnold, Kaplan Josseline, Rozet Jean-Michel
Abstract excerpt
A large multiplex family presumably affected with autosomal recessive cone-rod dystrophy (CRD) was ascertained from Israel. In this family of Christian Arab ancestry with six consanguineous loops, linkage analysis failed to identify homozygosity in all six nuclear families at any of the three arC...
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