作者: Andrew E. Pink , Michael A. Simpson , Nemesha Desai , Richard C. Trembath , Jonathan N.W. Barker
DOI: 10.1038/JID.2012.372
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摘要: … It may segregate as an autosomal dominant trait, and heterozygous mutations in the γ-secretase genes NCSTN, PSENEN, and PSEN1 have recently been reported in a small number of …