一种导致遗传性痉挛性截瘫76型的钙蛋白酶1基因新突变。 - Suppr

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超能文献

A Novel Mutation of CAPN1 Gene Causing Hereditary Spastic Paraplegia-76.

作者信息

Chinta Vijayendra R, Krishnan Pramod

机构信息

Department of Neurology, Manipal Hospital, Bengaluru, Karnataka, India.

出版信息

Ann Indian Acad Neurol. 2022 May-Jun;25(3):555-558. doi: 10.4103/aian.aian_977_21. Epub 2022 May 3.

DOI:10.4103/aian.aian_977_21

PMID:35936610

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9350748/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a1e7/9350748/e405bb53e4a5/AIAN-25-555-g001.jpg

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本文引用的文献

CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia.

Eur J Med Genet. 2019 Dec;62(12):103605. doi: 10.1016/j.ejmg.2018.12.010. Epub 2018 Dec 17.

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

Am J Hum Genet. 2016 May 5;98(5):1038-1046. doi: 10.1016/j.ajhg.2016.04.002.

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The calpain system.

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