伴有糖尿病、范科尼综合征和线粒体DNA缺失的复合体I缺乏症 - Suppr

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超能文献

Complex I deficiency with diabetes, Fanconi syndrome and mtDNA deletion.

作者信息

Luder A, Barash V

机构信息

Ziv Hospital, Safed, Israel.

出版信息

J Inherit Metab Dis. 1994;17(3):298-300. doi: 10.1007/BF00711812.

DOI:10.1007/BF00711812

PMID:7807936

Abstract

摘要

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Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

J Clin Invest. 1990 Nov;86(5):1601-8. doi: 10.1172/JCI114881.

Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease.在线粒体疾病的骨骼肌纤维节段中，缺失突变体在线粒体基因组功能上对野生型具有显性作用。

Cell. 1990 Jul 13;62(1):43-9. doi: 10.1016/0092-8674(90)90238-a.

Mitochondrial myopathies: divergences of genetic deletions, biochemical defects and the clinical syndromes.线粒体肌病：基因缺失、生化缺陷与临床综合征的差异

J Neurol. 1990 Feb;237(1):5-10. doi: 10.1007/BF00319660.

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