Measurement of ATP production in mitochondrial disorders
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-006-0148-8
Reference19 articles.
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2. Carelli V, Baracca A, Barogi S, et al (2002) Biochemical–clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation. Arch Neurol 59: 264–270.
3. Chomyn A, Martinuzzi A, Yoneda M, et al (1992) MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts. Proc Natl Acad Sci USA 89: 4221–4225.
4. Houstek J, Klement P, Hermanska J, et al (1995) Altered properties of mitochondrial ATP-synthase in patients with a T → G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA. Biochim Biophys Acta 1271: 349–357.
5. Houstek J, Klement P, Hermanska J, et al (1999a) Complex approach to prenatal diagnosis of cytochrome c oxidase deficiencies. Prenat Diagn 19: 552–558.
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