Zobrazeno 1 - 3
of 3
pro vyhledávání: '"S. K. Heath"'
The highly polymorphic nature of the mitochondrial genome (mtDNA) has proved valuable to the population geneticist, but can cause serious problems in the identification of disease causing mutations. A T→C or T→G transition at nt 8993 in human mtD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0182d2186903c6c0d1fb605da3dda95e
https://europepmc.org/articles/PMC1735065/
https://europepmc.org/articles/PMC1735065/
Autor:
I. A. Aligianis, P. A. Farndon, S. K. Heath, R. G. F. Gray, Mark D. Kilby, S. Akaboshi, K. M. Gibson
Publikováno v:
Journal of Inherited Metabolic Disease. 25:517-518
Prenatal diagnosis was performed by both DNA and enzymatic analysis on non-identical twins conceived by in vitro fertilization and at risk of succinate semialdehyde dehydrogenase deficiency. One fetus was predicted to be affected and one unaffected a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc8212ade0653ab89a121d3dd594ab62
https://doi.org/10.1023/a:1021215605013
https://doi.org/10.1023/a:1021215605013
Publikováno v:
Journal of Inherited Metabolic Disease. 25:523-524
This study reports the development of a mutation screening strategy for tyrosinaemia type I, and the identification of six novel mutations in the FAA gene.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc4062b5cae8eb117573837cc97ea380
https://doi.org/10.1023/a:1021275923668
https://doi.org/10.1023/a:1021275923668