Fumio Endo

Haplotype and Mutation Analysis in Japanese Patients with Wilson Disease

Manoj Nanji, Trong Tue Nguyen, Jean H. Kawasoe et al. · The American Journal of Human Genetics · 1997 · 142 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis

Yuichi Miura, Makoto Hiura, Katsumi Torigoe et al. · Human Genetics · 2000 · 126 citations

Life Sciences, Genetics, Molecular Genetics +11

Characterization of the gene encoding human pituitary-specific transcription factor, Pit-1

Kohji Ohta, Yoshitaka Nobukuni, Hiroshi Mitsubuchi et al. · Gene · 1992 · 56 citations

Medicine, Genetics, Molecular Biology +12

Molecular Cloning, Tissue Distribution, and Chromosomal Localization of Human Cationic Amino Acid Transporter 2 (HCAT2)

Ryuuji Hoshide, Yoichiro Ikeda, Shinnyo Karashima et al. · Genomics · 1996 · 27 citations

Engineering, Molecular Biology, Molecular Genetics +12

Chloride channel CLCN5 mutations in Japanese children with familial idiopathic low molecular weight proteinuria

Hitoshi Nakazato, Junichiro Yoshimuta, Shinnyo Karashima et al. · Kidney International · 1999 · 22 citations · Full text

Life Sciences, Genetics, Pediatrics +14