Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness

H. Osaka; A. Takagi; Y. Tsuyusaki; T. Wada; M. Lai; S. Yamashita; H. Shimbo; H. Saitsu; G.S. Salomons; C.A.J.M. Jakobs; N. Aida; S. Toshihiro; T. Kuhara; N. Matsumoto

doi:https://doi.org/10.1016/j.ymgme.2012.02.018

Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness

H. Osaka, A. Takagi, Y. Tsuyusaki, T. Wada, M. Lai, S. Yamashita, H. Shimbo, H. Saitsu, G.S. Salomons, C.A.J.M. Jakobs, N. Aida, S. Toshihiro, T. Kuhara, N. Matsumoto

Research output: Contribution to journal › Article › Academic › peer-review

29 Citations (Scopus)

Original language	English
Pages (from-to)	43-47
Journal	Molecular Genetics and Metabolism
Volume	106
Issue number	1
DOIs	https://doi.org/10.1016/j.ymgme.2012.02.018
Publication status	Published - 2012

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https://doi.org/10.1016/j.ymgme.2012.02.018

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Osaka, H., Takagi, A., Tsuyusaki, Y., Wada, T., Lai, M., Yamashita, S., Shimbo, H., Saitsu, H., Salomons, G. S., Jakobs, C. A. J. M., Aida, N., Toshihiro, S., Kuhara, T., & Matsumoto, N. (2012). Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness. Molecular Genetics and Metabolism, 106(1), 43-47. https://doi.org/10.1016/j.ymgme.2012.02.018

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title = "Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness",

author = "H. Osaka and A. Takagi and Y. Tsuyusaki and T. Wada and M. Lai and S. Yamashita and H. Shimbo and H. Saitsu and G.S. Salomons and C.A.J.M. Jakobs and N. Aida and S. Toshihiro and T. Kuhara and N. Matsumoto",

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Osaka, H, Takagi, A, Tsuyusaki, Y, Wada, T, Lai, M, Yamashita, S, Shimbo, H, Saitsu, H, Salomons, GS , Jakobs, CAJM, Aida, N, Toshihiro, S, Kuhara, T & Matsumoto, N 2012, 'Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness', Molecular Genetics and Metabolism, vol. 106, no. 1, pp. 43-47. https://doi.org/10.1016/j.ymgme.2012.02.018

TY - JOUR

T1 - Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness

AU - Osaka, H.

AU - Takagi, A.

AU - Tsuyusaki, Y.

AU - Wada, T.

AU - Lai, M.

AU - Yamashita, S.

AU - Shimbo, H.

AU - Saitsu, H.

AU - Salomons, G.S.

AU - Jakobs, C.A.J.M.

AU - Aida, N.

AU - Toshihiro, S.

AU - Kuhara, T.

AU - Matsumoto, N.

PY - 2012

Y1 - 2012

U2 - https://doi.org/10.1016/j.ymgme.2012.02.018

DO - https://doi.org/10.1016/j.ymgme.2012.02.018

M3 - Article

C2 - 22472424

SN - 1096-7192

VL - 106

SP - 43

EP - 47

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 1

ER -