Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants

出版年份 2012 全文链接

标题

作者

关键词

Mutation, Mutation detection, Nonsense mutation, Polymerase chain reaction, Deletion mutation, Ligation assay, Immunoprecipitation, Reverse transcriptase-polymerase chain reaction

出版物

PLoS One

Volume 7, Issue 7, Pages e41516

出版商

Public Library of Science (PLoS)

发表日期

2012-07-28

DOI

10.1371/journal.pone.0041516

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