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Träfflista för sökning "L773:0340 6717 OR L773:1432 1203 srt2:(1985-1989)"

Sökning: L773:0340 6717 OR L773:1432 1203 > (1985-1989)

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1.
  • Dahl, N, et al. (författare)
  • DNA linkage analysis of X-linked retinoschisis.
  • 1988
  • Ingår i: Human Genetics. - 0340-6717 .- 1432-1203. ; 78:3, s. 228-32
  • Tidskriftsartikel (refereegranskat)abstract
    • Four families with juvenile retionoschisis (RS) have been studied by linkage analysis utilizing eleven polymorphic X-chromosomal markers. The results suggest a close linkage between DXS43, DXS41, and DXS208 and the RS locus at Xp22. The RS locus is distal to the OTC locus, DXS84, and the DMD locus but proximal to DXS85. No recombination events were observed between the RS locus and DXS43 and DXS41. The maximum likelihood estimate of the recombination fraction (theta) was thus zero and the peak lod scores (z) were 4.98 (DXS43) and 4.09 (DXS41). The linkage data suggest that the gene order on Xp is DXS85-(DXS43, RS, DXS41)-DMD-DXS84-OTC.
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2.
  • Abrahamson, Magnus, et al. (författare)
  • The human cystatin C gene (CST3), mutated in hereditary cystatin C amyloid angiopathy, is located on chromosome 20
  • 1989
  • Ingår i: Human Genetics. - : Springer. - 1432-1203. ; 82:3, s. 223-226
  • Tidskriftsartikel (refereegranskat)abstract
    • Hereditary cystatin C amyloid angiopathy has recently been shown to be caused by a point mutation in the cystatin C gene. To determine the chromosomal localization of the gene, 20 human-rodent somatic cell hybrids and a fulllength cystatin C cDNA probe were used. Southern blot analysis of BamHI digested cell hybrid DNA revealed that the probe recognizes a 10.6 kb human specific fragment and that this fragment cosegregates with human chromosome 20. Therefore, the human cystatin C gene (CST3) was assigned to chromosome 20.
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