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- Børresen, A L, et al.
(författare)
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Prenatal diagnosis of glycerol-kinase deficiency associated with a DNA deletion on the short arm of the X-chromosome.
- 1987
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Ingår i: Clinical genetics. - 0009-9163. ; 32:4, s. 254-9
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Tidskriftsartikel (refereegranskat)abstract
- 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.
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- Möller, Claes, 1950-, et al.
(författare)
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Usher's syndrome
- 1988
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Ingår i: Vertigo, nausea, tinnitus and hypoacusia in metabolic disorders. - Amsterdam : Elsevier. - 9780444810243 ; , s. 319-326
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)
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