Fumarate hydratase deficiency: increased fumaric acid in amniotic fluid of two affected pregnancies
Author:
Affiliation:
1. ; Department of Chemical Pathology and Neonatal Screening; The Children's Hospital; Sheffield
2. Department of Clinical Chemistry; The District Hospital; Peterborough
3. ; Department of Clinical Genetics; City Hospital; Nottingham UK
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005667906032/fullpdf
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3. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases;Moraes;Am J Hum Genet,1991
4. Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion;Poulton;Hum Mol Genet,1994
5. Clinical manifestation of mitochondrial DNA depletion;Vu;Neurology,1998
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