Homozygous females for a X-linked RPGR-ORF15 mutation in an Iranian family with retinitis pigmentosa.

Beigi, Fahimeh; Del Pozo-Valero, Marta; Martin-Merida, Inmaculada; Manaviat, Masoud Reza; Ayuso, Carmen; Ghasemi, Nasrin

Beigi, Fahimeh; Del Pozo-Valero, Marta; Martin-Merida, Inmaculada; Manaviat, Masoud Reza; Ayuso, Carmen; Ghasemi, Nasrin.

Afiliação

Beigi F; Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Del Pozo-Valero M; Department of Clinical Genetics and Genomics, University Hospital Fundacion Jimenez Diaz, Health Research Institute Fundacion Jimenez Diaz (IIS-FJD, UAM), Madrid, Spain; CIBERER (Biomedical Research Network Centre for Rare Diseases), ISCIII, Madrid, Spain.
Martin-Merida I; Department of Clinical Genetics and Genomics, University Hospital Fundacion Jimenez Diaz, Health Research Institute Fundacion Jimenez Diaz (IIS-FJD, UAM), Madrid, Spain; CIBERER (Biomedical Research Network Centre for Rare Diseases), ISCIII, Madrid, Spain.
Manaviat MR; Department of Ophthalmology, Shahid Sadoughi University of Medical Science, Yazd Diabetes Research Center, Yazd, Iran.
Ayuso C; Department of Clinical Genetics and Genomics, University Hospital Fundacion Jimenez Diaz, Health Research Institute Fundacion Jimenez Diaz (IIS-FJD, UAM), Madrid, Spain; CIBERER (Biomedical Research Network Centre for Rare Diseases), ISCIII, Madrid, Spain. Electronic address: cayuso@fjd.es.
Ghasemi N; Abortion Research Centre, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran. Electronic address: nghasemi479@gmail.com.

Exp Eye Res ; 211: 108714, 2021 10.

Article em En | MEDLINE | ID: mdl-34390733

Assuntos

Proteínas do Olho/genética; Genes Ligados ao Cromossomo X/genética; Doenças Genéticas Ligadas ao Cromossomo X/genética; Mutação/genética; Fases de Leitura Aberta/genética; Retinose Pigmentar/genética; Povo Asiático/genética; Criança; Consanguinidade; Análise Mutacional de DNA; Éxons/genética; Feminino; Estudos de Associação Genética; Sequenciamento de Nucleotídeos em Larga Escala; Homozigoto; Humanos; Irã (Geográfico)/epidemiologia; Masculino; Linhagem; Retinose Pigmentar/epidemiologia

Palavras-chave

Homozygous females; Next generation sequencing; ORF15; Open reading frame 15; Retinitis pigmentosa GTPase regulator gene

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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