Missense mutation in SLC4A11 in two Pakistani families affected with congenital hereditary endothelial dystrophy (CHED2).

Kaul, Haiba; Suman, Maryam; Khan, Zoya; Ullah, Muhammad Ikram; Ashfaq, Usman Ali; Idrees, Sobia

Kaul, Haiba; Suman, Maryam; Khan, Zoya; Ullah, Muhammad Ikram; Ashfaq, Usman Ali; Idrees, Sobia.

Afiliación

Kaul H; Department of Biochemistry, University of Health Sciences, Lahore, Pakistan. haibakaul@gmail.com.
Suman M; Department of Biotechnology, Kinnaird College, Lahore, Pakistan.
Khan Z; Department of Biotechnology, Kinnaird College, Lahore, Pakistan.
Ullah MI; Department of Biochemistry, University of Health Sciences, Lahore, Pakistan.
Ashfaq UA; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Idrees S; Department of Bioinformatics and Biotechnology, Government College University Faisalabad, Pakistan.

Clin Exp Optom ; 99(1): 73-7, 2016 Jan.

Article en En | MEDLINE | ID: mdl-26286922

Asunto(s)

Proteínas de Transporte de Anión/genética; Antiportadores/genética; Distrofias Hereditarias de la Córnea/genética; Mutación Missense; Consanguinidad; Femenino; Ligamiento Genético; Haplotipos; Humanos; Masculino

Palabras clave

DNA sequencing; SLC4A11; autosomal recessive congenital hereditary dystrophy (CHED2); consanguinity; mutation

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Distrofias Hereditarias de la Córnea / Antiportadores / Mutación Missense / Proteínas de Transporte de Anión Límite: Female / Humans / Male Idioma: En Revista: Clin Exp Optom Asunto de la revista: OPTOMETRIA Año: 2016 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Estados Unidos

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