Identification of a novel genetic locus underlying tremor and dystonia

BACKGROUND: Five affected individuals with syndromic tremulous dystonia, spasticity, and white matter disease from a consanguineous extended family covering a period of over 24 years are presented. A positional cloning approach utilizing genome-wide linkage, homozygozity mapping and whole exome sequ...

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Detalhes bibliográficos
Publicado no:Hum Genomics
Main Authors: Monies, Dorota, Al-Shaar, Hussam Abou, Goljan, Ewa A., Al-Younes, Banan, Al-Breacan, Muna Monther Abdullah, Al-Saif, Maher Mohammed, Wakil, Salma M., Meyer, Brian F., Khabar, Khalid S. A., Bohlega, Saeed
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Primary Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5674688/
https://ncbi.nlm.nih.gov/pubmed/29110692
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-017-0123-5
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