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Autosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family.
  1. S Xu,
  2. M Nakazawa,
  3. M Tamai,
  4. A Gal
  1. Institut fur Humangenetik, Universitäts-Krankenhaus Eppendorf, Hamburg, Germany.

    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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