A case of laminopathy with the mutation of <i>LMNA</i> gene identified by the exome analysis of disease-related genes-Reference-Cited by-同舟云学术

A case of laminopathy with the mutation of LMNA gene identified by the exome analysis of disease-related genes

Published:2021 Issue:10 Volume:61 Page:663-670
ISSN:0009-918X
Container-title:Rinsho Shinkeigaku
language:en
Short-container-title:Rinsho Shinkeigaku

Author:

Nakamura Kenichiro¹,Matsuda Takao²,Hanaoka Takuya¹,Goto Katsumasa¹,Matsubara Etsuro³

Affiliation:

1. Department of Neurology, Nishibeppu National Hospital

2. Department of Reproductive Medicine and Genetics, Nishibeppu National Hospital

3. Department of Neurology, Faculty of Medicine, Oita University

Publisher

Societas Neurologica Japonica

Subject

Neurology (clinical)

Link

https://www.jstage.jst.go.jp/article/clinicalneurol/61/10/61_cn-001610/_pdf

Reference24 articles.

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2. 2) 1000 Genomes data in Ensembl [Internet]. Hixton, Cambridgeshir, CB10 1SD, United Kingdom: European Bioinformatics Institute; release date 2009. [cited 2021 Feb 27]. Available from: http://grch37.ensembl.org/index.html, English.

3. 3) The Genome Aggregation Database (gnomAD), Exome Aggregation Consortium (ExAC) [Internet]. Cambridge, Massachusetts (MA), USA: Broad Institute of MIT and Harvard; release date 2014 Oct. [cited 2021 Feb 27]. Available from: https://gnomad.broadinstitute.org/, English.

4. 4) ClinVar [Internet]. 8600 Rockville Pike, Bethesda, Maryland (MD), 20894 USA: National Center for Biotechnology Information, U.S. National Library of Medicine. [cited 2021 Feb 27. Available from: www.ncbi.nlm.nih.gov/clinvar/, English.

5. 5) 日本人多層オミックス参照パネルjMorp［Internet］．宮城県仙台市：東北メディカル・メガバンク機構ToMMo，東北大学；last update 2021 Feb 17. [cited 2021 Feb 27]. Available from: https://jmorp.megabank.tohoku.ac.jp/202102/variants, English.