Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing
出版年份 2013 全文链接
标题
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing
作者
关键词
Usher syndrome, <em class=EmphasisTypeItalic >USH2A</em>, Deletion, Duplication, Pseudoexon, Multiplex ligation dependant probe amplification (MLPA), Array CGH
出版物
Orphanet Journal of Rare Diseases
Volume 8, Issue 1, Pages 122
出版商
Springer Nature
发表日期
2013-08-08
DOI
10.1186/1750-1172-8-122
参考文献
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