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Identification of novel variants in patients with non-collagen VI Bethlem myopathy by the emerging technology of exomic sequencing

Lookup NU author(s): Dr Debbie Hicks, Elena Martoni, Professor Volker StraubORCiD, Professor Hanns Lochmuller, Dr Steven Laval, Emerita Professor Katherine Bushby


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Publication metadata

Author(s): Hicks D, Martoni E, Straub V, Lochmuller H, Laval SH, Bushby K

Publication type: Conference Proceedings (inc. Abstract)

Publication status: Published

Conference Name: United Kingdom Neuromuscular Translational Research Conference

Year of Conference: 2012

Pages: S29-S29

ISSN: 0960-8966

Publisher: Elsevier Ltd


DOI: 10.1016/S0960-8966(12)70087-1

Library holdings: Search Newcastle University Library for this item

Series Title: Neuromuscular Disorders

ISBN: 18732364