PRDM12基因新突变导致的遗传性感觉性多神经病、痛觉缺失和全面发育迟缓 - Suppr

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超能文献

Hereditary Sensory Polyneuropathy, Pain Insensitivity and Global Developmental Delay due to Novel Mutation in PRDM12 Gene.

作者信息

Saini Arushi Gahlot, Padmanabh Hansashree, Sahu Jitendra Kumar, Kurth Ingo, Voigt Martin, Singhi Pratibha

机构信息

Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.

Institute of Human Genetics, Jena University Hospital, 07743, Jena, Germany.

出版信息

Indian J Pediatr. 2017 Apr;84(4):332-333. doi: 10.1007/s12098-016-2284-y. Epub 2017 Jan 3.

DOI:10.1007/s12098-016-2284-y

PMID:28050684

Abstract

摘要

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引用本文的文献

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本文引用的文献

Transcriptional regulator PRDM12 is essential for human pain perception.转录调节因子PRDM12对人类疼痛感知至关重要。

Nat Genet. 2015 Jul;47(7):803-8. doi: 10.1038/ng.3308. Epub 2015 May 25.

Mechanisms of disease in hereditary sensory and autonomic neuropathies.遗传性感觉和自主神经病的发病机制。

Nat Rev Neurol. 2012 Jan 24;8(2):73-85. doi: 10.1038/nrneurol.2011.227.

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