Application of long-range polymerase chain reaction in the diagnosis of X-linked dystonia-parkinsonism

Neurogenetics

Volumn 14, Issue 2, 2013, Pages 167-169

  Kawarai, Toshitaka ^a   Pasco, Paul Matthew D ^b   Teleg, Rosalia A ^b   Kamada, Masaki ^c   Sakai, Waka ^a   Shimozono, Komei ^a   Mizuguchi, Makoto ^a   Tabuena, Daisy ^d   Orlacchio, Antonio ^e,f   Izumi, Yuishin ^a   Goto, Satoshi ^g   Lee, Lillian V ^b   Kaji, Ryuji ^a  

^a UNIVERSITY OF TOKUSHIMA   (Japan)

^b Philippine Children's Medical Center   (Philippines)

^c KAGAWA UNIVERSITY   (Japan)

^d WEST VISAYAS STATE UNIVERSITY   (Philippines)

^e IRCCS FONDAZIONE SANTA LUCIA   (Italy)

^f UNIVERSITY OF ROME TOR VERGATA   (Italy)

^g TOKUSHIMA UNIVERSITY HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; TATA BINDING PROTEIN ASSOCIATED FACTOR; TATA BINDING PROTEIN ASSOCIATED FACTOR 1; UNCLASSIFIED DRUG;

DEGENERATIVE DISEASE; DNA DETERMINATION; GENE DELETION; GENE INSERTION; GENETIC COUNSELING; GENETIC TRANSCRIPTION; HUMAN; LETTER; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM; X LINKED DYSTONIA PARKINSONISM;

DYSTONIC DISORDERS; GENETIC DISEASES, X-LINKED; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; POLYMERASE CHAIN REACTION;

EID: 84877726351     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-013-0357-x     Document Type: Letter

References (5)

1. Lee LV, Rivera C, Teleg RA et al (2011) The unique phenomenology of sex-linked dystonia parkinsonism (XDP, DYT3, "Lubag"). Int J Neurosci 121(Suppl 1):3-11
2. Makino S, Kaji R, Ando S et al (2007) Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism. Am J Hum Genet 80(3):393-406
3. Nolte D, Niemann S, Muller U (2003) Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism. Proc Natl Acad Sci U S A 100(18):10347-10352
4. Herzfeld T, Nolte D, Grznarova M, Hofmann A, Schultze JL, Muller U. X-linked dystonia parkinsonism syndrome (XDP, lubag): disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism. Human molecular genetics 2012
5. Thomas MC, Chiang CM (2006) The general transcription machinery and general cofactors. Crit Rev Biochem Mol Biol 41(3):105-178