Biblio
Journal Article
Tamura S, Higuchi K, Tamaki M, Inoue C, Awazawa R, Mitsuki N, Nakazawa Y, Mishima H, Takahashi K, Kondo O, et al. Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency. Clin Immunol. 2015.
Kashiwa A, Makiyama T, Kohjitani H, Maurissen TL, Ishikawa T, Yamamoto Y, Wuriyanghai Y, Gao J, Huang H, Imamura T, et al. Disrupted Cav1.2 Selectivity Causes Overlapping Long QT and Brugada Syndrome Phenotypes in CACNA1C-E1115K iPS Cell Model. Heart Rhythm. 2022.