Progress in genetic counselling and prenatal diagnosis of maternally inherited mtDNA diseases
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference27 articles.
1. Biogenesis of mitochondria;Attardi;Annu Rev Cell Biol,1988
2. Human mitochondrial complex I in health and disease;Smeitink vdHL;Am J Hum Genet,1999
3. Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency;Tiranti;Ann Neurol,1999
4. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene;Papadopoulou;Nat Genet,1999
5. Human deafness dystonia syndrome is a mitochondrial disease;Koehler;Proc Natl Acad Sci USA,1999
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