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Characterization of the GCNT2 deletion responsible for congenital cataracts in PKCC215.

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posted on 2016-12-09, 19:30 authored by Bushra Irum, Shahid Y. Khan, Muhammad Ali, Muhammad Daud, Firoz Kabir, Bushra Rauf, Fareeha Fatima, Hira Iqbal, Arif O. Khan, Saif Al Obaisi, Muhammad Asif Naeem, Idrees A. Nasir, Shaheen N. Khan, Tayyab Husnain, Sheikh Riazuddin, Javed Akram, Allen O. Eghrari, S. Amer Riazuddin

A) Model of chromosome 6 indicating the placement of the primer pairs in the PCR amplification of the GCNT2 region. Visualization (on a 1.5% agarose gel) of the amplification products from each primer pair with the DNA of B) an unaffected and C) affected member of PKCC215. Amplification of the genomic DNA of the affected individual was successful (produced specific PCR products) with the primer pairs indicated in green. Amplification of the affected individual’s DNA failed (non-specific or no PCR products) with the primer pairs indicated in red. Note: Asterisk indicates non-specific PCR products.

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