MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families.

Benzer Materyaller

• X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28.
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• MASA syndrome: new clinical features and linkage analysis using DNA probes.
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• Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.
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• Further localization of X-linked hydrocephalus in the chromosomal region Xq28
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  Baskı/Yayın Bilgisi: (1992)
• Refining the genetic location of the gene for X linked hydrocephalus within Xq28.
  Yazar:: Jouet, M, ve diğerleri
  Baskı/Yayın Bilgisi: (1993)