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Identification of Novel Mutation in CNGA3 gene by Whole-Exome Sequencing and In-Silico Analyses for Genotype-Phenotype Assessment with Autosomal Recessive Achromatopsia in Pakistani families.
Arshad, Muhammad Waqar; Lee, Yujin; Malik, Muhammad Arshad; Khan, Jahangir; Khan, Aslam; Kareem, Abdul; Kang, Changsoo; Shabbir, Muhammad Imran.
  • Arshad MW; Department of Bioinformatics and Biotechnology, International Islamic University, Islamabad, Pakistan, Department of Biology.
  • Lee Y; Sungshin Women's University, Seoul, Republic of Korea.
  • Malik MA; Department of Bioinformatics and Biotechnology, International Islamic University, Islamabad, Pakistan, Department of Biology.
  • Khan J; Department of Bioinformatics and Biotechnology, International Islamic University, Islamabad, Pakistan, Department of Biology.
  • Khan A; Department of Bioinformatics and Biotechnology, International Islamic University, Islamabad, Pakistan, Department of Biology.
  • Kareem A; Department of Bioinformatics and Biotechnology, International Islamic University, Islamabad, Pakistan, Department of Biology.
  • Kang C; Sungshin Women's University, Seoul, Republic of Korea.
  • Shabbir MI; Department of Bioinformatics and Biotechnology, International Islamic University, Islamabad, Pakistan, Department of Biology.
J Pak Med Assoc ; 69(2): 183-189, 2019 Feb.
Article en En | MEDLINE | ID: mdl-30804581
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Banco de datos: MEDLINE Asunto principal: Nistagmo Patológico / Defectos de la Visión Cromática / Canales Catiónicos Regulados por Nucleótidos Cíclicos Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Límite: Adult / Female / Humans / Male País como asunto: Asia Idioma: En Año: 2019 Tipo del documento: Article
Search on Google
Imprimir
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PubMed Links

Banco de datos: MEDLINE Asunto principal: Nistagmo Patológico / Defectos de la Visión Cromática / Canales Catiónicos Regulados por Nucleótidos Cíclicos Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Límite: Adult / Female / Humans / Male País como asunto: Asia Idioma: En Año: 2019 Tipo del documento: Article