PMID: 8592343Nov 1, 1995Paper

Autosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family

Journal of Medical Genetics
S XuA Gal

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.

References

Jun 1, 1994·Nature Genetics·G GyapayJ Weissenbach
Feb 1, 1994·Human Molecular Genetics·M al-MaghthehS S Bhattacharya

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Citations

May 23, 1998·American Journal of Human Genetics·M Al-MaghthehS S Bhattacharya
Jul 22, 2008·Human Molecular Genetics·Thomas Rio FrioCarlo Rivolta

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