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

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 s...

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Bibliografski detalji
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2013
Teme:
Short Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3573197/
https://ncbi.nlm.nih.gov/pubmed/22929024
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.158
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