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Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders.
Zhang Z, Suzuki Y, Shimozawa N, Fukuda S, Imamura A, Tsukamoto T, Osumi T, Fujiki Y, Orii T, Wanders RJ, Barth PG, Moser HW, Paton BC, Besley GT, Kondo N. Zhang Z, et al. Among authors: kondo n. Hum Mutat. 1999;13(6):487-96. doi: 10.1002/(SICI)1098-1004(1999)13:6<487::AID-HUMU9>3.0.CO;2-T. Hum Mutat. 1999. PMID: 10408779
Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.
Fukuda S, Tomatsu S, Masuno M, Ogawa T, Yamagishi A, Rezvi GM, Sukegawa K, Shimozawa N, Suzuki Y, Kondo N, Imaizumi K, Kuroki Y, Okabe T, Orii T. Fukuda S, et al. Among authors: kondo n. Hum Mutat. 1996;7(2):123-34. doi: 10.1002/(SICI)1098-1004(1996)7:2<123::AID-HUMU6>3.0.CO;2-D. Hum Mutat. 1996. PMID: 8829629
Incidence of peroxisomal disorders in Japan.
Suzuki Y, Shimozawa N, Yajima S, Inoue K, Orii T, Kondo N. Suzuki Y, et al. Among authors: kondo n. Jpn J Hum Genet. 1996 Mar;41(1):167-75. doi: 10.1007/BF01892624. Jpn J Hum Genet. 1996. PMID: 8914632
Peroxisomal disorders: clinical aspects.
Suzuki Y, Shimozawa N, Takahashi Y, Imamura A, Kondo N, Orii T. Suzuki Y, et al. Among authors: kondo n. Ann N Y Acad Sci. 1996 Dec 27;804:442-9. doi: 10.1111/j.1749-6632.1996.tb18635.x. Ann N Y Acad Sci. 1996. PMID: 8993563
2,235 results