Report of a recurrent mutation in ARS (component B) gene with severe Mal de Meleda in a large consanguineous Pakistani family

Sadia Nawaz, Muhammad Tariq, Aysha Azhar, Mahmood Rasool, Syeda Marriam Bakhtiar, Ilyas Ahmad, Shoaib Ur Rehman, Muhammad Jameel, Tahir Naeem Khan, Shehla Anjum Baig, Joakim Klar, Niklas Dahl, Shahid Mahmood Baig

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