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Items: 2

1.
A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher-Neuhäuser syndrome
Ruizhi Zheng, Yaguang Zhao, Jiayu Wu, Yuanmei Wang, Jian-Ling Liu, Zhi-Ling Zhou, Xiao-Tao Zhou, Dan-Na Chen, Wei-Hua Liao, Jia-Da Li
Mol Med Rep. 2018 Jul; 18(1): 261–267. Published online 2018 May 3. doi: 10.3892/mmr.2018.8955
PMCID:
PMC6059678
AbstractArticlePDF–1.3M
2.
Neuropathy target esterase and a homologous Drosophila neurodegeneration-associated mutant protein contain a novel domain conserved from bacteria to man.
M J Lush, Y Li, D J Read, A C Willis, P Glynn
Biochem J. 1998 May 15; 332(Pt 1): 1–4. doi: 10.1042/bj3320001
PMCID:
PMC1219444
SummaryPDF–645K

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