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| 「寄付講座 臨床遺伝学研究室」の研究業績のデータです。 |
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[ 論 文 ]
| 1. |
Yamamoto N., Akamatsu N., Sakuraba H., Matsuno K., Hosoya R., Nogami H., Kasahara K., Mituyama S., Arai M.: Novel Bernard-Soulier syndrome variants caused by compound heterozygous mutations (case I) or a cytoplasmic tail truncation (case II) of GPIbα. Thromb. Res., 131: e160-167, 2013.
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| 2. |
Mawatari K., Yasukawa H., Oba T., Nagata T., Togawa T., Tsukimura T., Kyogoku S., Ohshima H., Minami T., Sugi Y., Sakuraba H., Imaizumi T.: Screening for Fabry disease in patients with left ventricular hypertrophy. Int. J. Cardiol., 167: 1059-1061, 2013.
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| 3. |
Ogawa Y., Tanaka M., Tanabe M., Suzuki T., Togawa T., Fukushige T., Kanekura T., Sakuraba H., Oishi K.: Impaired neural differentiation of induced pluripotent stem cells generated from a mouse model of Sandhoff disease. PLoS ONE, 8: e55856, 2013.
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| 4. |
Watanabe T., Hanawa H., Suzuki T., Jiao S., Yoshida K., Ogura M., Ohno Y., Hayashi Y., Ito M., Kashimura T., Obata H., Sato A., Ozawa T., Kodama M., Sakuraba H., Minamino T.: A mutant mRNA expression in an endomyocardial biopsy sample obtained from a patient with a cardiac variant of Fabry disease caused by a novel acceptor splice site mutation in the invariant AG of intron 5 of the α-galactosidase A gene. Int. Med., 52: 777-780, 2013.
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| 5. |
Nishida M., Kosaka K., Hasegawa K., Nishikawa K., Itoi T., Tsukimura T., Togawa T., Sakuraba H., Hamaoka K.: A case of Fabry nephropathy with histological features of oligonephropathy. Eur. J. Pediatr., DOI 10.1007/s00431-013-2118-0, 2013.
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| 6. |
Nakano S., Morizane Y., Makisaka N., Suzuki T., Togawa T., Tsukimura T., Kawashima I., Sakuraba H., Shibasaki F.: Development of a highly sensitive immuno-PCR assay for the measurement of α-galactosidase A protein levels in serum and plasma. PLoS ONE, 8: e78588, 2013.
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| 7. |
Maita N., Tsukimura T., Taniguchi T., Saito S., Ohno K., Taniguchi H., Sakuraba H.: Human α-L-iduronidase uses its own N-glycan as a substrate-binding and catalytic module. Proc. Natl. Acad. Sci. U. S. A., 110: 14628-14633, 2013.
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| 8. |
Saito S., Ohno K., Sakuraba H.: Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A. PLoS ONE, 8: e 84267, 2013.
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