Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness-Reference-Cited by-同舟云学术

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Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness

Published:2006 Issue:20 Volume:140A Page:2216-2222
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Feigenbaum Annette,Bai Ren-Kui,Doherty Emily S.,Kwon Haeyoung,Tan Duanjun,Sloane Avril,Cutz Ernest,Robinson Brian H.,Wong Lee-Jun C.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference24 articles.

1. Sequence and organization of the human mitochondrial genome

2. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

3. Detection and Quantification of Heteroplasmic Mutant Mitochondrial DNA by Real-Time Amplification Refractory Mutation System Quantitative PCR Analysis: A Single-Step Approach

4. Simultaneous Detection and Quantification of Mitochondrial DNA Deletion(s), Depletion, and Over-Replication in Patients with Mitochondrial Disease

5. MITOMAP: a human mitochondrial genome database--2004 update

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2. Case report: Late-onset MELAS syndrome with mtDNA 5783G>A mutation diagnosed by urinary sediment genetic testing;Frontiers in Genetics;2024-05-31

3. A deafness-associated mitochondrial DNA mutation caused pleiotropic effects on DNA replication and tRNA metabolism;Nucleic Acids Research;2022-08-30

4. Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome;Neurology Genetics;2022-03-03

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