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Clinical and Experimental Immunology|June 4, 2005
Leaky phenotype of X-linked agammaglobulinaemia in a Japanese familyH Kaneko, N Kawamoto, T Asano, et al.Biochemical and Biophysical Research Communications|December 6, 1997
BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signalH Kaneko, K O Orii, E Matsui, et al.Clinical Genetics|August 25, 2004
Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic caseM Nagao-Watanabe, T Fukao, E Matsui, et al.Clinical Genetics|October 1, 1996
Life-threatening cardiac involvement throughout life in a case of Costello syndromeT Fukao, S Sakai, N Shimozawa, et al.Journal of Inherited Metabolic Disease|October 2, 2003
The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activityT Fukao, G X Zhang, N Sakura, et al.Genomics|June 1, 1994
A physical map across chromosome 11q22-q23 containing the major locus for ataxia telangiectasiaH J Ambrose, P J Byrd, C M McConville, et al.Blood|September 9, 1999
ATM is upregulated during the mitogenic response in peripheral blood mononuclear cellsT Fukao, H Kaneko, G Birrell, et al.The Journal of Biological Chemistry|December 5, 2000
A new member of the HCO3(-) transporter superfamily is an apical anion exchanger of beta-intercalated cells in the kidneyH Tsuganezawa, K Kobayashi, M Iyori, et al.Transplantation Proceedings|June 15, 2004
Characteristics of pancreas transplantation currently performed in japanM Ishibashi, T Ito, A Sugitani, et al.International Journal of Oncology|July 31, 1999
Identification of a 5-cM region of common allelic loss on 8p12-p21 in human breast cancer and genomic analysis of the hEXT1L/EXTR1/EXTL3 gene in this locusA Suzuki, X Shao, X Q Song, et al.Pageof 14