Detection of Niemann-Pick type C mutations in infants with liver disease using targeted next generation sequencing

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Bibliographic Details
Published in:Molecular genetics and metabolism 2014-02, Vol.111 (2), p.S76-S76
Main Authors: McKay, Kirsten E., Ruth, Nicola, Gray, Zoe, Lloyd, Carla, Hartley, Jane L., Macdonald, Fiona, Hendriksz, Christian, Gissen, Paul, Kelly, Deirdre A.
Format: Article
Language:English
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ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2013.12.175