Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.

Beheshtian, Maryam; Saee Rad, Samira; Babanejad, Mojgan; Mohseni, Marzieh; Hashemi, Hassan; Eshghabadi, Arash; Hajizadeh, Fedra; Akbari, Mohammad Reza; Kahrizi, Kimia; Riazi Esfahani, Mohammad; Najmabadi, Hossein

Beheshtian, Maryam; Saee Rad, Samira; Babanejad, Mojgan; Mohseni, Marzieh; Hashemi, Hassan; Eshghabadi, Arash; Hajizadeh, Fedra; Akbari, Mohammad Reza; Kahrizi, Kimia; Riazi Esfahani, Mohammad; Najmabadi, Hossein.

Afiliação

Beheshtian M; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Saee Rad S; Dietary Supplements and Probiotic Research Center, Alborz University of Medical Sciences, Karaj, Iran, Noor Ophthalmology Research Center, Noor Eye Hospital, Tehran, Iran.
Babanejad M; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Mohseni M; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Hashemi H; Noor Ophthalmology Research Center, Noor Eye Hospital, Tehran, Iran.
Eshghabadi A; Noor Ophthalmology Research Center, Noor Eye Hospital, Tehran, Iran.
Hajizadeh F; Noor Ophthalmology Research Center, Noor Eye Hospital, Tehran, Iran.
Akbari MR; Women's College Research Institute, Women's College Hospital, University of Toronto, Toronto, ON, Canada, Canada and Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada.
Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Riazi Esfahani M; Noor Ophthalmology Research Center, Noor Eye Hospital, Tehran, Iran.
Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. hnajm12@yahoo.com.

Arch Iran Med ; 18(11): 776-85, 2015 Nov.

Article em En | MEDLINE | ID: mdl-26497376

Assuntos

Análise Mutacional de DNA/métodos; Exoma/genética; Retinose Pigmentar/classificação; Retinose Pigmentar/genética; Transportadores de Cassetes de Ligação de ATP/genética; Adolescente; Adulto; Nucleotídeo Cíclico Fosfodiesterase do Tipo 6/genética; Proteínas do Olho/genética; Feminino; Homozigoto; Humanos; Irã (Geográfico); Masculino; Proteínas de Membrana/genética; Pessoa de Meia-Idade; Mutação de Sentido Incorreto; Proteínas do Tecido Nervoso/genética; Linhagem; Fenótipo; Adulto Jovem

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Análise Mutacional de DNA / Retinose Pigmentar / Exoma Limite: Adolescent / Adult / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Ano de publicação: 2015 Tipo de documento: Article

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