Mitochondrial tRNA(Thr) mutations and lethal infantile mitochondrial myopathy.
作者信息
Brown M D, Torroni A, Shoffner J M, Wallace D C
出版信息
Am J Hum Genet. 1992 Aug;51(2):446-7.
Abstract
摘要
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本文引用的文献
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Evidence in a lethal infantile mitochondrial disease for a nuclear mutation affecting respiratory complexes I and IV.致死性婴儿线粒体疾病中存在影响呼吸链复合体I和IV的核突变的证据。
Neurology. 1989 Sep;39(9):1203-9. doi: 10.1212/wnl.39.9.1203.
2
Identification of point mutations by mispairing PCR as exemplified in MERRF disease.以肌阵挛性癫痫伴破碎红纤维病（MERRF）为例，通过错配PCR鉴定点突变。
Biochem Biophys Res Commun. 1990 Dec 14;173(2):561-5. doi: 10.1016/s0006-291x(05)80071-3.
3
mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.线粒体DNA耗竭伴组织表达可变：线粒体疾病中的一种新型基因异常
Am J Hum Genet. 1991 Mar;48(3):492-501.
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Mitochondrial mutation in fatal infantile cardiomyopathy.致命性婴儿心肌病中的线粒体突变
Lancet. 1990 Dec 8;336(8728):1452. doi: 10.1016/0140-6736(90)93162-i.
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Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency.
Biochem Biophys Res Commun. 1991 May 15;176(3):1112-5. doi: 10.1016/0006-291x(91)90399-r.
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