Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders.

Y, Tian; JL, Wang; W, Huang; S, Zeng; B, Jiao; Z, Liu; Z, Chen; Y, Li; Y, Wang; HX, Min; XJ, Wang; Y, You; RX, Zhang; XY, Chen; F, Yi; YF, Zhou; HY, Long; CJ, Zhou; X, Hou; JP, Wang; B, Xie; F, Liang; ZY, Yang; QY, Sun; EG, Allen; AM, Shafik; HE, Kong; JF, Guo; XX, Yan; ZM, Hu; K, Xia; H, Jiang; HW, Xu; RH, Duan; P, Jin; BS, Tang; L, Shen

doi:10.1016/j.ajhg.2019.05.013

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Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders.

Shared by NobleBlocks on Jun 6, 2019 • 12:00 AM UTC

Authors:

Tian Y

Wang JL

Huang W

Abstract

Neuronal intranuclear inclusion disease (NIID) is a slowly progressing neurodegenerative disease characterized by eosinophilic intranuclear inclusions in the nervous system and multiple visceral organs. The clinical manifestation of NIID varies widely, and both familial and sporadic cases have been ...

Subject

Linkage analysis

Whole-exome Sequencing

Neuronal Intranuclear Inclusion Disease

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