Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism

פריטים דומים

• Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder
  מאת: Kinning, E, et al.
  יצא לאור: (2005)
• Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3
  מאת: Lee, Y, et al.
  יצא לאור: (2003)
• Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay.
  מאת: Shaw, N J, et al.
  יצא לאור: (1991)
• Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta
  מאת: Hart, P, et al.
  יצא לאור: (2004)
• MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta
  מאת: Kim, J, et al.
  יצא לאור: (2005)