Mutations in HPCA Cause Autosomal-Recessive Primary Isolated Dystonia

Reports of primary isolated dystonia inherited in an autosomal-recessive (AR) manner, often lumped together as “DYT2 dystonia,” have appeared in the scientific literature for several decades, but no genetic cause has been identified to date. Using a combination of homozygosity mapping and whole-exom...

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Pubblicato in:Am J Hum Genet
Autori principali: Charlesworth, Gavin, Angelova, Plamena R., Bartolomé-Robledo, Fernando, Ryten, Mina, Trabzuni, Daniah, Stamelou, Maria, Abramov, Andrey Y., Bhatia, Kailash P., Wood, Nicholas W.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2015
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4385177/
https://ncbi.nlm.nih.gov/pubmed/25799108
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.02.007
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