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 journalArticle

2 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)469
Number of pages1
JournalHuman Genetics
Volume127
Issue number4
StatePublished - Apr 2010

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Dystonia Musculorum Deformans
Apoptosis Regulatory Proteins
Dystonia
DNA-Binding Proteins
Missense Mutation
Amino Acid Substitution
Nuclear Proteins
Codon
Mutation
Genes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Xiao, J., Zhao, Y., Bastian, R. W., Perlmutter, J. S., Racette, B. A., Tabbal, S. D., ... LeDoux, M. S. (2010). Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6. Human Genetics, 127(4), 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 journalArticle

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.
Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD et al. Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6. Human Genetics. 2010 Apr;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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