Article
Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese families.
Human genetics - 1 Apr 2003
Kobayashi Norimoto, Agematsu Kazunaga, Sugita Kanji, Sako Masahiro, Nonoyama Shigeaki, Yachie Akihiro, Kumaki Satoru, Tsuchiya Shigeru, Ochs Hans D, Sugita Katsuo, Fukushima Yoshimitsu, Komiyama Atsushi
Abstract excerpt
A subgroup of patients with severe combined immunodeficiency (SCID) and increased cellular radiation sensitivity (RS-SCID) have mutations of Artemis, a gene that encodes a protein essential for V(D)J recombination and DNA double-strand break repair. RS-SCID described to date are either of European origin or are Athabascan-speaking native Americans belonging to the Navajo and Apache tribes. We have identified...
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