Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene-Reference-Cited by-同舟云学术

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Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene

Published:2023-09 Issue:9 Volume:66 Page:104821
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Mauring L.^ORCID,Puusepp S.,Parik M.,Roomets E.,Teek R.,Reimand T.,Pajusalu S.^ORCID,Kaljurand K.,Õunap K.^ORCID

Funder

Eesti Teadusagentuur

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference13 articles.

1. The mutational constraint spectrum quantified from variation in 141,456 humans;Karczewski;Nature,2020

2. DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy;Kieninger;J. Med. Genet.,2022

3. Patterns of genetic connectedness between modern and medieval Estonian genomes reveal the origins of a major ancestry component of the Finnish population;Kivisild;Am. J. Hum. Genet.,2021

4. Establishing risk of vision loss in Leber hereditary optic neuropathy;Lopez Sanchez;Am. J. Hum. Genet.,2021

5. mtDNA variation and analysis using mitomap and mitomaster;Lott;Curr Protoc Bioinforma,2013

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals;Frontiers in Neurology;2023-12-01

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