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  1. Artikel Jurnal Teks lengkap

    Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan

    Maleeha Maria; Muhammad Ajmal; Maleeha Azam dkk.

    PLOS ONE, Vol. 10 No. 3 · 2015 · Inggris · PLOS Scopus

    Background: Homozygosity mapping has facilitated the identification of the genetic causes underlying inherited diseases, particularly in consanguineous families with multiple affected individuals. This knowledge has also resulted in a mutation dataset that can be used in a cost and time effective…