New Noncoding Base Pair Mutation at the Identical Locus as the Original NCMD/MCDR1 in a Mexican Family, Suggesting a Mutational Hotspot.

Small, Kent W; Van de Sompele, Stijn; Avetisjan, Jessica; Udar, Nitin; Agemy, Steven; De Baere, Elfride; Shaya, Fadi S

Small, Kent W; Van de Sompele, Stijn; Avetisjan, Jessica; Udar, Nitin; Agemy, Steven; De Baere, Elfride; Shaya, Fadi S.

Afiliação

Small KW; Macula and Retina Institute, Glendale and Los Angeles, CA, USA.
Van de Sompele S; Molecular Insight Research Foundation, Glendale and Los Angeles, CA, USA.
Avetisjan J; Center for Medical Genetics Ghent (CMGG), Department of Biomolecular Medicine, Ghent University, and Ghent University Hospital, Ghent, Belgium.
Udar N; Macula and Retina Institute, Glendale and Los Angeles, CA, USA.
Agemy S; Molecular Insight Research Foundation, Glendale and Los Angeles, CA, USA.
De Baere E; Macula and Retina Institute, Glendale and Los Angeles, CA, USA.
Shaya FS; Molecular Insight Research Foundation, Glendale and Los Angeles, CA, USA.

J Vitreoretin Dis ; 7(1): 33-42, 2023.

Article em En | MEDLINE | ID: mdl-37008391

Palavras-chave

DNase I site; MCDR1; NCMD; North Carolina macular dystrophy; PRDM13; SV; chromosome 6; copy number variant; inherited retinal diseases; mutational hotspot; single nucleotide variants; whole-genome sequencing

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Observational_studies País/Região como assunto: Mexico Idioma: En Revista: J Vitreoretin Dis Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos

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