Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation-Reference-Cited by-同舟云学术

Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation

Published:1999-12 Issue:8 Volume:22 Page:899-914
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

White S. L.¹,Shanske S.²,McGill J. J.³,Mountain H.⁴,Geraghty M. T.⁵,DiMauro S.²,Dahl H.-H. M.¹,Thorburn D. R.¹

Affiliation:

1. ; The Murdoch Institute; Royal Children's Hospital; Melbourne Australia

2. ; Department of Neurology, College of Physicians and Surgeons; Columbia University; New York USA

3. ; Department of Metabolic Medicine; Royal Children's Hospital and Department of Paediatrics and Child Health, University of Queensland; Brisbane Australia

4. ; Molecular Genetics Laboratory, Department of Pathology; Royal Brisbane Hospital; Brisbane Australia

5. ; Centre for Medical Genetics, Department of Pediatrics; Johns Hopkins Hospital; Baltimore USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005639407166/fullpdf

Reference49 articles.

1. Prenatal diagnosis of T8993G mitochondrial DNA point mutation in amniocytes by heteroplasmy detection;Bartley;Am J Hum Genet,1996

2. Skewed segregation of the mtDNA nt 8993 (T]G) mutation in human oocytes;Blok;Am J Hum Genet,1997

3. Prenatal diagnosis of cytochrome c oxidase deficiency in cultured amniocytes is hazardous;Bourgeron;Prenat Diagn,1992

4. Maternally inherited Leigh syndrome;Ciafaloni;J Pediatr,1993

5. Mitochondrial biogenesis in the liver during development and oncogenesis;Cuezva;J Bioenerg Biomembr,1997

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