Article
[Pycnodysostosis--common ancestor of some Danish patients. Examination and diagnosis based on molecular genetics].
Ugeskrift for laeger - 11 Feb 2002
Haagerup Annette, Christensen Mogens Fjord, Hertz Jens Michael, Kruse Torben A
Abstract excerpt
Eight patients with pycnodysostosis from six Danish families were examined for mutations in the cathepsin K gene. Three different mutations are the cause of pycnodysostosis in the six families--five of whom come from Ringkøbing County and one from Vejle County. One mutation has a high frequency in the families from Ringkoebing County. The five families are related through a common ancestor, who introduced the...
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