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标题:A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.
时间:2019-06-13 00:01:11
DOI:10.1371/journal.pone.0040858
PMID:22815844
作者:Remko Hersmus;Yvonne G. van der Zwan;Hans Stoop;Pascal Bernard;Rajini Sreenivasan
出版源: 《Plos One》 ,2012 ,7 (7) :e40858
摘要:A 46,XY Female DSD Patient with Bilateral Gonadoblastoma, a Novel SRY Missense Mutation Combined with a WT1 KTS Splice-Site MutationHumansGonadoblastomaOvarian NeoplasmsGonadal Dysgenesis, 46,XYWT1 ProteinsRNA Splice SitesImmunohistochemistryDNA Mutational AnalysisAmino Acid SequenceBase SequencePatients with Disorders of Sex Development (DSD), especially those with gonadal ...
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