Literature DB >> 6803203

Possible assignment of a dominant retinitis pigmentosa gene to chromosome 1.

J R Heckenlively, J T Pearlman, R S Sparkes, M A Spence, D Zedalis, L Field, M Sparkes, M Crist, S Tideman.   

Abstract

A genetic linkage study, performed on a large family with autosomal dominant retinitis pigmentosa (RP), demonstrated that the RP gene may be linked to the Rh locus, known to be on the short arm of human chromosome 1. Linkage studies on RP along with other studies, can help to more accurately classify these disease entities. Localizing the RP gene locus has the potential for allowing the early diagnosis of individuals at risk.

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Year:  1982        PMID： 6803203     DOI： 10.1159/000265173

Source DB:  PubMed          Journal:  Ophthalmic Res        ISSN： 0030-3747            Impact factor:   2.892


  4 in total

1.  Linkage of internal minisatellite loci on chromosome 1 and exclusion of autosomal dominant retinitis pigmentosa proximal to rhesus.

Authors:  C F Inglehearn; S S Papiha; M Jay; A F Wright; A T Moore; S S Bhattacharya
Journal:  J Med Genet       Date:  1990-01       Impact factor: 6.318

Review 2.  Genetic factors modifying clinical expression of autosomal dominant RP.

Authors:  Stephen P Daiger; Suma P Shankar; Alice B Schindler; Lori S Sullivan; Sara J Bowne; Terri M King; E Warick Daw; Edwin M Stone; John R Heckenlively
Journal:  Adv Exp Med Biol       Date:  2006       Impact factor: 2.622

3.  Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.

Authors:  S J Bowne; S P Daiger; M M Hims; M M Sohocki; K A Malone; A B McKie; J R Heckenlively; D G Birch; C F Inglehearn; S S Bhattacharya; A Bird; L S Sullivan
Journal:  Hum Mol Genet       Date:  1999-10       Impact factor: 6.150

4.  Autosomal dominant retinitis pigmentosa: exclusion of the gene from the short arm of chromosome 1 including the region surrounding the rhesus locus.

Authors:  D G Bradley; G J Farrar; E M Sharp; P Kenna; M M Humphries; D J McConnell; S P Daiger; P McWilliam; P Humphries
Journal:  Am J Hum Genet       Date:  1989-04       Impact factor: 11.025
  4 in total

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