Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.

Ullah, Inayat; Kabir, Firoz; Iqbal, Muhammad; Gottsch, Clare Brooks S; Naeem, Muhammad Asif; Assir, Muhammad Zaman; Khan, Shaheen N; Akram, Javed; Riazuddin, Sheikh; Ayyagari, Radha; Hejtmancik, J Fielding; Riazuddin, S Amer

Ullah, Inayat; Kabir, Firoz; Iqbal, Muhammad; Gottsch, Clare Brooks S; Naeem, Muhammad Asif; Assir, Muhammad Zaman; Khan, Shaheen N; Akram, Javed; Riazuddin, Sheikh; Ayyagari, Radha; Hejtmancik, J Fielding; Riazuddin, S Amer.

Afiliação

Ullah I; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
Kabir F; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD.
Iqbal M; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
Gottsch CB; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD.
Naeem MA; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
Assir MZ; Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan; National Centre for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.
Khan SN; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
Akram J; Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan; National Centre for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.
Riazuddin S; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan; Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan; National Centre for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.
Ayyagari R; Shiley Eye Institute, University of California, San Diego, CA.
Hejtmancik JF; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD.
Riazuddin SA; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD.

Mol Vis ; 22: 797-815, 2016.

Article em En | MEDLINE | ID: mdl-27440997

Assuntos

Consanguinidade; Proteínas do Olho/genética; Mutação/genética; Retinose Pigmentar/genética; Adolescente; Adulto; Alelos; Sequência de Bases; Criança; Cromossomos Humanos Par 6/genética; Simulação por Computador; Sequência Conservada/genética; Análise Mutacional de DNA; Família; Feminino; Marcadores Genéticos; Haplótipos/genética; Humanos; Escore Lod; Masculino; Repetições de Microssatélites/genética; Pessoa de Meia-Idade; Linhagem; Polimorfismo de Nucleotídeo Único/genética; Sítios de Splice de RNA/genética; Adulto Jovem

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Consanguinidade / Proteínas do Olho / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2016 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google