COQ7基因中的一个奠基者突变，即p.(Leu111Pro)，在伊朗人群中导致了纯合型遗传性痉挛性截瘫（HSP）。 - Suppr

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超能文献

A founder mutation in COQ7, p.(Leu111Pro), causes pure hereditary spastic paraplegia (HSP) in the Iranian population.

作者信息

Sadr Zahra, Zare-Abdollahi Davood, Rohani Mohammad, Alavi Afagh

机构信息

Genetics research center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

Department of Neurology, Iran University of Medical Sciences, Hazrat Rasool Hospital, Tehran, Iran.

出版信息

Neurol Sci. 2023 Jul;44(7):2599-2602. doi: 10.1007/s10072-023-06707-x. Epub 2023 Mar 1.

DOI:10.1007/s10072-023-06707-x

PMID:36854932

Abstract

摘要

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