Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.

Jianfeng Xiao; Y. Zhao; Robert W. Bastian; Joel S. Perlmutter; Brad A. Racette; Samer D. Tabbal; Morvarid Karimi; Randal Paniell; Andrew Blitzer; Sat Dev Batish; Zbigniew K. Wszolek; Ryan J. Uitti; Jay A. Van Gerpen; Peter Hedera; David K. Simon; Daniel Tarsy; Daniel D. Truong; Karen P. Frei; Ronald F. Pfeiffer; Suzhen Gong; Mark S. LeDoux

Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.

Jianfeng Xiao, Y. Zhao, Robert W. Bastian, Joel S. Perlmutter, Brad A. Racette, Samer D. Tabbal, Morvarid Karimi, Randal Paniell, Andrew Blitzer, Sat Dev Batish, Zbigniew K. Wszolek, Ryan J. Uitti, Jay A. Van Gerpen, Peter Hedera, David K. Simon, Daniel Tarsy, Daniel D. Truong, Karen P. Frei, Ronald F. Pfeiffer, Suzhen GongMark S. LeDoux

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

3 Scopus citations

Original language	English
Pages (from-to)	469
Number of pages	1
Journal	Human genetics
Volume	127
Issue number	4
State	Published - Apr 2010

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Xiao, J., Zhao, Y., Bastian, R. W., Perlmutter, J. S., Racette, B. A., Tabbal, S. D., Karimi, M., Paniell, R., Blitzer, A., Batish, S. D., Wszolek, Z. K., Uitti, R. J., Van Gerpen, J. A., Hedera, P., Simon, D. K., Tarsy, D., Truong, D. D., Frei, K. P., Pfeiffer, R. F., ... LeDoux, M. S. (2010). Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6. Human genetics, 127(4), 469.

Xiao, Jianfeng ; Zhao, Y. ; Bastian, Robert W. ; Perlmutter, Joel S. ; Racette, Brad A. ; Tabbal, Samer D. ; Karimi, Morvarid ; Paniell, Randal ; Blitzer, Andrew ; Batish, Sat Dev ; Wszolek, Zbigniew K. ; Uitti, Ryan J. ; Van Gerpen, Jay A. ; Hedera, Peter ; Simon, David K. ; Tarsy, Daniel ; Truong, Daniel D. ; Frei, Karen P. ; Pfeiffer, Ronald F. ; Gong, Suzhen ; LeDoux, Mark S. / Novel human pathological mutations. Gene symbol : THAP1. Disease: dystonia 6. In: Human genetics. 2010 ; Vol. 127, No. 4. pp. 469.

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title = "Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.",

author = "Jianfeng Xiao and Y. Zhao and Bastian, {Robert W.} and Perlmutter, {Joel S.} and Racette, {Brad A.} and Tabbal, {Samer D.} and Morvarid Karimi and Randal Paniell and Andrew Blitzer and Batish, {Sat Dev} and Wszolek, {Zbigniew K.} and Uitti, {Ryan J.} and {Van Gerpen}, {Jay A.} and Peter Hedera and Simon, {David K.} and Daniel Tarsy and Truong, {Daniel D.} and Frei, {Karen P.} and Pfeiffer, {Ronald F.} and Suzhen Gong and LeDoux, {Mark S.}",

year = "2010",

month = apr,

language = "English",

volume = "127",

pages = "469",

journal = "Human Genetics",

issn = "0340-6717",

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Xiao, J, Zhao, Y, Bastian, RW, Perlmutter, JS , Racette, BA, Tabbal, SD, Karimi, M, Paniell, R, Blitzer, A, Batish, SD, Wszolek, ZK, Uitti, RJ, Van Gerpen, JA, Hedera, P, Simon, DK, Tarsy, D, Truong, DD, Frei, KP, Pfeiffer, RF, Gong, S & LeDoux, MS 2010, 'Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.', Human genetics, vol. 127, no. 4, pp. 469.

Novel human pathological mutations. Gene symbol : THAP1. Disease: dystonia 6. / Xiao, Jianfeng; Zhao, Y.; Bastian, Robert W.; Perlmutter, Joel S.; Racette, Brad A.; Tabbal, Samer D.; Karimi, Morvarid; Paniell, Randal; Blitzer, Andrew; Batish, Sat Dev; Wszolek, Zbigniew K.; Uitti, Ryan J.; Van Gerpen, Jay A.; Hedera, Peter; Simon, David K.; Tarsy, Daniel; Truong, Daniel D.; Frei, Karen P.; Pfeiffer, Ronald F.; Gong, Suzhen; LeDoux, Mark S.

In: Human genetics, Vol. 127, No. 4, 04.2010, p. 469.

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

TY - JOUR

T1 - Novel human pathological mutations. Gene symbol

T2 - THAP1. Disease: dystonia 6.

AU - Xiao, Jianfeng

AU - Zhao, Y.

AU - Bastian, Robert W.

AU - Perlmutter, Joel S.

AU - Racette, Brad A.

AU - Tabbal, Samer D.

AU - Karimi, Morvarid

AU - Paniell, Randal

AU - Blitzer, Andrew

AU - Batish, Sat Dev

AU - Wszolek, Zbigniew K.

AU - Uitti, Ryan J.

AU - Van Gerpen, Jay A.

AU - Hedera, Peter

AU - Simon, David K.

AU - Tarsy, Daniel

AU - Truong, Daniel D.

AU - Frei, Karen P.

AU - Pfeiffer, Ronald F.

AU - Gong, Suzhen

AU - LeDoux, Mark S.

PY - 2010/4

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M3 - Article

C2 - 21488297

AN - SCOPUS:79955745816

VL - 127

SP - 469

JO - Human Genetics

JF - Human Genetics

SN - 0340-6717

IS - 4

ER -

Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.

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