Detection of Niemann-Pick type C mutations in infants with liver disease using targeted next generation sequencing
McKay, Kirsten E.; Ruth, Nicola; Gray, Zoe; Lloyd, Carla; Hartley, Jane L.; Macdonald, Fiona; Hendriksz, Christian; Gissen, Paul; Kelly, Deirdre A.
- 期刊名称Molecular Genetics and Metabolism
- 作者McKay, Kirsten E.; Ruth, Nicola; Gray, Zoe; Lloyd, Carla; Hartley, Jane L.; Macdonald, Fiona; Hendriksz, Christian; Gissen, Paul; Kelly, Deirdre A.
- 卷第111卷
- 期第2期
- 印刷ISSN1096-7192
- 文件大小51.28KB
- 发表时间2014-02
- DOI10.1016/j.ymgme.2013.12.175