A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency
Nature Genetics2015Vol. 48(1), pp. 74–78
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Haifa H. Jabara, Steven E. Boyden, Janet Chou, Narayanaswamy Ramesh, Michel J. Massaad, Halli Benson, Wayne Bainter, David Fraulino, Fedik Rahimov, Colin A. Sieff, Zhi-Jian Liu, Salem Alshemmari, Basel K. al-Ramadi, Hasan Al‐Dhekri, Rand Arnaout, Mohammad Abu-Shukair, Anant Vatsayan, Eli Silver, Sanjay Ahuja, E. Graham Davies, Martha Sola‐Visner, Toshiro K. Ohsumi, Nancy C. Andrews, Luigi D. Notarangelo, Mark D. Fleming, Waleed Al–Herz, Louis M. Kunkel, Raif S. Geha
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