New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3)

X-linked recessive dystonia-parkinsonism is a rare movement disorder that is highly prevalent in Panay Island in the Philippines. Earlier studies identified seven different genetic alterations within a 427-kb disease locus on the X chromosome; however, the exact disease-causing variant among these i...

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Vydáno v:Eur J Hum Genet
Hlavní autoři: Domingo, Aloysius, Westenberger, Ana, Lee, Lillian V, Brænne, Ingrid, Liu, Tian, Vater, Inga, Rosales, Raymond, Jamora, Roland Dominic, Pasco, Paul Matthew, Cutiongco-dela Paz, Eva Maria, Freimann, Karen, Schmidt, Thomas GPM, Dressler, Dirk, Kaiser, Frank J, Bertram, Lars, Erdmann, Jeanette, Lohmann, Katja, Klein, Christine
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2015
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4592086/
https://ncbi.nlm.nih.gov/pubmed/25604858
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.292
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