Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity

Most autosomal genetic causes of childhood-onset hypogammaglobulinemia are currently not well understood. Most affected individuals are simplex cases, but both autosomal-dominant and autosomal-recessive inheritance have been described. We performed genetic linkage analysis in consanguineous families...

সম্পূর্ণ বিবরণ

গ্রন্থ-পঞ্জীর বিবরন
প্রধান লেখক: Lopez-Herrera, G, Tampella, G, Pan-Hammarström, Q, Herholz, P, Trujillo-Vargas, C, Phadwal, K, Simon, A, Moutschen, M, Etzioni, A, Mory, A, Srugo, I, Melamed, D, Hultenby, K, Liu, C, Baronio, M, Vitali, M, Philippet, P, Dideberg, V, Aghamohammadi, A, Rezaei, N, Enright, V, Du, L, Salzer, U, Eibel, H, Pfeifer, D
বিন্যাস: Journal article
ভাষা:English
প্রকাশিত: 2012