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Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

✍ Scribed by Michael N. Weedon; Robert Hastings; Richard Caswell; Weijia Xie; Konrad Paszkiewicz; Thalia Antoniadi; Maggie Williams; Cath King; Lynn Greenhalgh; Ruth Newbury-Ecob; Sian Ellard

Book ID: 113423077
Publisher: American Society of Human Genetics
Year: 2011
Tongue: English
Weight: 154 KB
Volume: 89
Category: Article
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2011.07.002

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