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Results: 1-10 |
Results: 10
A novel a(-4)-to-g acceptor splice site mutation leads to three bases insertion in ferrochelatase mRNA in a patient with erythropoietic protoporphyria
Authors: Yotsumoto, S Shimada, S Terasaki, K Taketani, S Kobayashi, K Saheki, T Kanzaki, T
Citation: S. Yotsumoto et al., A novel a(-4)-to-g acceptor splice site mutation leads to three bases insertion in ferrochelatase mRNA in a patient with erythropoietic protoporphyria, J INVES DER, 117(1), 2001, pp. 159-161
A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Meniere's syndrome and without mental retardation
Authors: Kodama, K Kobayashi, H Abe, R Ohkawara, A Yoshii, N Yotsumoto, S Fukushige, T Nagatsuka, Y Hirabayashi, Y Kanzaki, T
Citation: K. Kodama et al., A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Meniere's syndrome and without mental retardation, BR J DERM, 144(2), 2001, pp. 363-368
A case of symptomatic heterozygous female Fabry's disease without detectable mutation in the alpha-galactosidase gene
Authors: Handa, Y Yotsumoto, S Isobe, E Sai, Y Yoshii, N Nakao, S Fujita, N Hamaguchi, S Kanzaki, T
Citation: Y. Handa et al., A case of symptomatic heterozygous female Fabry's disease without detectable mutation in the alpha-galactosidase gene, DERMATOLOGY, 200(3), 2000, pp. 262-265
Analyses of the transglutaminase 1 gene mutation and ultrastructural characteristics in a Japanese patient with lamellar ichthyosis
Authors: Yotsumoto, S Akiyama, M Yoneda, K Fukushige, T Kobayashi, K Saheki, T Kanzaki, T
Citation: S. Yotsumoto et al., Analyses of the transglutaminase 1 gene mutation and ultrastructural characteristics in a Japanese patient with lamellar ichthyosis, J DERMA SCI, 24(2), 2000, pp. 119-125
Early onset sarcoidosis masquerading as juvenile rheumatoid arthritis
Authors: Yotsumoto, S Takahashi, Y Takei, S Shimada, S Miyata, K Kanzaki, T
Citation: S. Yotsumoto et al., Early onset sarcoidosis masquerading as juvenile rheumatoid arthritis, J AM ACAD D, 43(5), 2000, pp. 969-971
A case of follicular mucinosis treated successfully with minocycline
Authors: Yotsumoto, S Uchimiya, H Kanzaki, T
Citation: S. Yotsumoto et al., A case of follicular mucinosis treated successfully with minocycline, BR J DERM, 142(4), 2000, pp. 841-842
The beta subunit of the high-affinity IgE receptor, a candidate for atopicdermatitis, is not imprinted
Authors: Yotsumoto, S Kanzaki, T Ko, MSH
Citation: S. Yotsumoto et al., The beta subunit of the high-affinity IgE receptor, a candidate for atopicdermatitis, is not imprinted, BR J DERM, 142(2), 2000, pp. 370-371
Curved nail of the fourth toe
Authors: Yotsumoto, S Kanzaki, T
Citation: S. Yotsumoto et T. Kanzaki, Curved nail of the fourth toe, J AM ACAD D, 40(1), 1999, pp. 124-125
A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis
Authors: Yotsumoto, S Setoyama, M Hozumi, H Mizoguchi, S Fukumaru, S Kobayashi, K Saheki, T Kanzaki, T
Citation: S. Yotsumoto et al., A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis, J INVES DER, 112(5), 1999, pp. 810-814
A novel point mutation of the EDA gene in a Japanese family with anhidrotic ectodermal dysplasia
Authors: Yotsumoto, S Fukumaru, S Matsushita, S Oku, T Kobayashi, K Saheki, T Kanzaki, T
Citation: S. Yotsumoto et al., A novel point mutation of the EDA gene in a Japanese family with anhidrotic ectodermal dysplasia, J INVES DER, 111(6), 1998, pp. 1246-1247
Risultati: 1-10 |