Mutations in <i>FYCO1</i> identified in families with congenital cataracts.

Iqbal, Hira; Khan, Shahid Y; Zhou, Lin; Irum, Bushra; Ali, Muhammad; Ahmed, Mariya R; Shahzad, Mohsin; Ali, Muhammad Hassaan; Naeem, Muhammad Asif; Riazuddin, Sheikh; Hejtmancik, J Fielding; Riazuddin, S Amer

Mutations in FYCO1 identified in families with congenital cataracts.

Iqbal, Hira; Khan, Shahid Y; Zhou, Lin; Irum, Bushra; Ali, Muhammad; Ahmed, Mariya R; Shahzad, Mohsin; Ali, Muhammad Hassaan; Naeem, Muhammad Asif; Riazuddin, Sheikh; Hejtmancik, J Fielding; Riazuddin, S Amer.

Afiliação

Iqbal H; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
Khan SY; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD.
Zhou L; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD.
Irum B; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
Ali M; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD.
Ahmed MR; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD.
Shahzad M; Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan.
Ali MH; Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan.
Naeem MA; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
Riazuddin S; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
Hejtmancik JF; Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan.
Riazuddin SA; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD.

Mol Vis ; 26: 334-344, 2020.

Article em En | MEDLINE | ID: mdl-32355443

Assuntos

Catarata/genética; Proteínas Associadas aos Microtúbulos/genética; Adulto; Alelos; Catarata/sangue; Catarata/congênito; Catarata/patologia; Criança; Pré-Escolar; Cromossomos Humanos Par 3/genética; Códon sem Sentido; Consanguinidade; Família; Feminino; Mutação da Fase de Leitura; Genes Recessivos; Ligação Genética; Predisposição Genética para Doença; Haplótipos; Homozigoto; Humanos; Lactente; Masculino; Repetições de Microssatélites; Proteínas Associadas aos Microtúbulos/sangue; Mutação de Sentido Incorreto; Paquistão; Linhagem; Filogenia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Proteínas Associadas aos Microtúbulos Tipo de estudo: Prognostic_studies Limite: Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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