Efficient identification of novel mutations in patients with limb girdle muscular dystrophy

Por Boyden, Steven E., Salih, Mustafa A., Duncan, Anna R., White, Alexander J., Estrella, Elicia A., Burgess, Stephanie L., Seidahmed, Mohammed Z., Al-Jarallah, Abdullah S., Alkhalidi, Hisham M. S., Al-Maneea, Waleed M., Bennett, Richard R., Alshemmari, Salem H., Kunkel, Louis M., Kang, Peter B.
Publicado em 2010

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

Por Jabara, Haifa H., Boyden, Steven E., Chou, Janet, Ramesh, Narayanaswamy, Massaad, Michel J., Benson, Halli, Bainter, Wayne, Fraulino, David, Rahimov, Fedik, Sieff, Colin, Liu, Zhi-Jian, Alshemmari, Salem H., Al-Ramadi, Basel K., Al-Dhekri, Hasan, Arnaout, Rand, Abu-Shukair, Mohammad, Vatsayan, Anant, Silver, Eli, Ahuja, Sanjay, Davies, E. Graham, Sola-Visner, Martha, Ohsumi, Toshiro K., Andrews, Nancy C., Notarangelo, Luigi D., Fleming, Mark D., Al-Herz, Waleed, Kunkel, Louis M., Geha, Raif S.
Publicado no Nat Genet (2015)