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  • Title: Autosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family.
    Author: Xu S, Nakazawa M, Tamai M, Gal A.
    Journal: J Med Genet; 1995 Nov; 32(11):915-6. PubMed ID: 8592343.
    Abstract:
    A large four generation Japanese family was studied, in which autosomal dominant retinitis pigmentosa (ADRP) of very variable expression was segregating. Positive lod scores with maxima between 1.557-5.118 at theta = 0.00, strongly suggestive of linkage, were obtained for KLK, D19S180, D19S418, and D19S254 on chromosome 19q. Recently, an ADRP locus has been mapped to the same region in a British family, in which, again, several members subjectively had no clinical evidence of the disease although they had both an affected parent and an affected child.
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