Identification of a deletion mutation in the short flanking repeat region of exon 44 of the COL1A1 gene in a fetus with osteogenesis imperfecta type II

Podobné jednotky

• Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome
  Autor: Chih-Ping Chen, a další
  Vydáno: (2013-03-01)
• Osteogenesis imperfecta type IV: Prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome
  Autor: Chih-Ping Chen, a další
  Vydáno: (2012-06-01)
• Cerebral Aneurysms in a Patient with Osteogenesis Imperfecta and Exon 28 Polymorphism of COL1A2
  Autor: Petruzzellis, Marco, a další
  Vydáno: (2007)
• Cerebral Aneurysms in a Patient with Osteogenesis Imperfecta and Exon 28 Polymorphism of COL1A2
  Autor: Fox, Allan, a další
  Vydáno: (2007)
• Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene causing osteogenesis imperfecta
  Autor: Aftab, S A S, a další
  Vydáno: (2013)