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Prenatal diagnosis ...
Prenatal diagnosis of glycerol-kinase deficiency associated with a DNA deletion on the short arm of the X-chromosome.
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Børresen, A L (författare)
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- Hellerud, Christina, 1955 (författare)
- Gothenburg University,Göteborgs universitet,Medicinska institutionen,Department medicine
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Møller, P (författare)
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visa fler...
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Søvik, O (författare)
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Berg, K (författare)
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visa färre...
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(creator_code:org_t)
- 1987
- 1987
- Engelska.
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Ingår i: Clinical genetics. - 0009-9163. ; 32:4, s. 254-9
- Relaterad länk:
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https://gup.ub.gu.se...
Abstract
Ämnesord
Stäng
- Amniocentesis was performed in a woman who previously had given birth to a boy who died at 12 months of age with a diagnosis of glyceroluria and adrenal insufficiency. A high amount of glycerol (9.0 standard deviations above mean for controls) was found in the amniotic fluid. Enzyme activity of glycerol-kinase (ATP:glycerol-3-phosphotransferase, EC 2.7.1.30) in the cultured amniotic fluid cells was very low. The pregnancy was terminated and a male fetus was aborted. Examinations of DNA isolated from the fetus did demonstrate deletions of two out of 16 DNA probes mapping to the short arm of the X-chromosome. The probes failing to hybridize to DNA from the fetus were C7 (DXS28) and L1.4 (DXS68), both mapping to Xp21.3 and located terminal to the Duchenne locus.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinsk bioteknologi -- Medicinsk bioteknologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Medical Biotechnology -- Medical Biotechnology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- Abortion
- Induced
- Adult
- Amniocentesis
- Chromosome Deletion
- Female
- Glycerol Kinase
- deficiency
- genetics
- Humans
- Phosphotransferases
- deficiency
- Polymorphism
- Restriction Fragment Length
- Pregnancy
- Sex Chromosome Aberrations
- genetics
- X Chromosome
- ultrastructure
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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