[Detection of homozygous deletions in spinal muscular atrophy with genomic DNA sequencing].

Title[Detection of homozygous deletions in spinal muscular atrophy with genomic DNA sequencing].
Publication TypeJournal Article
Year of Publication2013
AuthorsCao Y-yan, Qu Y-jin, Song F, Bai J-li, Jin Y-wei, Wang H, Li Y, Zhang W-hui
JournalZhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Volume30
Issue4
Pagination410-4
Date Published2013 Aug
Abstract

To detect homozygous deletions of survival motor neuron (SMN) gene with genomic DNA sequencing, and to assess the value of genetic testing for the diagnosis of spinal muscular atrophy (SMA).

DOI10.7861/clinmedicine.13-6-543
Alternate JournalZhonghua Yi Xue Yi Chuan Xue Za Zhi