A novel mutation in the <i>PEX26</i> gene in a family from Dagestan with members affected by Zellweger spectrum disorder.

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作者： Natalia A,Semenova ^[1] ; Marina V,Kurkina ^[1] ; Andrey V,Marakhonov ^[1] ; Elena L,Dadali ^[1] ; Natalia N,Taran ^[2] ; Tatyana V,Strokova ^[2]

作者单位： Research Centre for Medical Genetics, 1 Moskvorechye Street, Moscow 115522, Russian Federation. ^[1] Federal Research Centre of Nutrition and Biotechnology, Kashirskoe shosse, d. 21, Moscow 115446, Russian Federation. ^[2]

关键词 ALT, alanine aminotransferase AST, aspartate aminotransferase CI, confidence interval Cholestasis DBS, dried blood spot GGT, gamma-glutamyltranspeptidase Hepatic dysfunction LDG, lactate dehydrogenase OMIM, Online Mendelian Inheritance in Man PBD, peroxisome biogenesis disorders PEX26 gene VLCFA, very-long-chain fatty acids ZSD, Zellweger spectrum disorders Zellweger syndrome spectrum

DOI 10.1016/j.ymgmr.2021.100754

PMID 33912394

发布时间 2022-04-22

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Molecular genetics and metabolism reports

2021年27卷

100754页

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A novel mutation in the <i>PEX26</i> gene in a family from Dagestan with members affected by Zellweger spectrum disorder.

Molecular genetics and metabolism reports

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Molecular genetics and metabolism reports

相关期刊

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A novel mutation in the <i>PEX26</i> gene in a family from Dagestan with members affected by Zellweger spectrum disorder.

Molecular genetics and metabolism reports

相似文献

Molecular genetics and metabolism reports

相关期刊

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