Identification of a novel genetic locus underlying tremor and dystonia

Identification of a novel genetic locus underlying tremor and dystonia

Abstract 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 ex...

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Bibliographic Details
Main Authors: Dorota Monies, Hussam Abou Al-Shaar, Ewa A. Goljan, Banan Al-Younes, Muna Monther Abdullah Al-Breacan, Maher Mohammed Al-Saif, Salma M. Wakil, Brian F. Meyer, Khalid S. A. Khabar, Saeed Bohlega
Format: Article
Language:English
Published: BMC 2017-11-01
Series:Human Genomics
Subjects:
Dystonia
Tremor
Familial
Syndromic
Online Access:http://link.springer.com/article/10.1186/s40246-017-0123-5

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http://link.springer.com/article/10.1186/s40246-017-0123-5

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