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Article

A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q.

European journal of human genetics : EJHG - 1 Mar 2013

Kamenarova Kunka, Cherninkova Sylvia, Romero Durán Margarita, Prescott DeQuincy, Valdés Sánchez Maria Lourdes, Mitev Vanio, Kremensky Ivo, Kaneva Radka, Bhattacharya Shomi S, Tournev Ivailo, Chakarova Christina

Abstract excerpt

Here we report recruitment of a three-generation Romani (Gypsy) family with autosomal dominant cone-rod dystrophy (adCORD). Involvement of known adCORD genes was excluded by microsatellite (STR) genotyping and linkage analysis. Subsequently, two independent total-genome scans using STR markers and single-nucleotide polymorphisms (SNPs) were performed. Haplotype analysis revealed a single 6.7-Mb novel locus...

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Identifiers

PMID: 22929024
DOI: 10.1038/ejhg.2012.158
PMCID: PMC3573197

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Source receipt: pubmed, retrieved 7 Sept 2026.

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