Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct

مواد مشابهة

• Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11
  بواسطة: Jiao, Xiaodong, وآخرون
  منشور في: (2007)
• Homozygosity for autosomal dominant Marfan syndrome.
  بواسطة: Chemke, J, وآخرون
  منشور في: (1984)
• Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families
  بواسطة: Li, Lin, وآخرون
  منشور في: (2017)
• Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance.
  بواسطة: Felbor, U, وآخرون
  منشور في: (1997)
• Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
  بواسطة: Raffaele di Barletta, Marina, وآخرون
  منشور في: (2000)