The importance of the nuclear background on the phenotypic signature caused by the MELAS m.1630 A>G variant.
作者信息
Gropman Andrea, Chiaramello Anne
机构信息
Children's National Medical Center, Division of Neurogenetics and Developmental Pediatrics, Washington, DC 20010, USA.
Department of Anatomy and Cell Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA.
出版信息
Mol Genet Metab Rep. 2019 Feb 16;19:100462. doi: 10.1016/j.ymgmr.2019.100462. eCollection 2019 Jun.
Abstract
摘要
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The importance of the nuclear background on the phenotypic signature caused by the MELAS m.1630 A>G variant.核背景对由MELAS m.1630 A>G变体引起的表型特征的重要性。
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The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic mother.核背景影响了有症状先证者和无症状母亲中近乎同质型 m.1630A>G MELAS 变异的外显率。
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