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Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia.

作者信息

Pandya A, Xia X J, Erdenetungalag R, Amendola M, Landa B, Radnaabazar J, Dangaasuren B, Van Tuyle G, Nance W E

出版信息

Am J Hum Genet. 1999 Dec;65(6):1803-6. doi: 10.1086/302658.

Abstract
摘要

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本文引用的文献

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Characterization of human mitochondrial RNase P: novel aspects in tRNA processing.
Biochem Biophys Res Commun. 1998 Jun 18;247(2):234-41. doi: 10.1006/bbrc.1998.8766.
3
Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation.
Am J Med Genet. 1998 Jun 5;77(5):421-6. doi: 10.1002/(sici)1096-8628(19980605)77:5<421::aid-ajmg13>3.0.co;2-k.
8
Processing of human mitochondrial tRNA(Ser(AGY))GCU: a novel pathway in tRNA biosynthesis.
J Mol Biol. 1997 Jan 31;265(4):365-71. doi: 10.1006/jmbi.1996.0750.

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