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Noriyuki Katsumata

Department of Molecular Endocrinology

National Research Institute for Child Health and Development

Tokyo 157-8535

Japan

[email]@nch.go.jp

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Affiliation

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan. 2001 - 2010

References

Novel intronic CYP21A2 mutation in a Japanese patient with classic salt-wasting steroid 21-hydroxylase deficiency. Katsumata, N., Shinagawa, T., Horikawa, R., Fujikura, K. Metab. Clin. Exp. (2010) [Pubmed]
Novel CYP17A1 mutation in a Japanese patient with combined 17alpha-hydroxylase/17,20-lyase deficiency. Katsumata, N., Ogawa, E., Fujiwara, I., Fujikura, K. Metab. Clin. Exp. (2010) [Pubmed]
Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans. Katsumata, N., Ohtake, M., Hojo, T., Ogawa, E., Hara, T., Sato, N., Tanaka, T. J. Clin. Endocrinol. Metab. (2002) [Pubmed]
A novel and de novo splice-donor site mutation in intron 3 of the GH-1 gene in a patient with isolated growth hormone deficiency. Katsumata, N., Matsuo, S., Sato, N., Tanaka, T. Growth Horm. IGF Res. (2001) [Pubmed]