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

Míreanna Comhchosúla

• 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
  le: Chih-Ping Chen, et al.
  Foilsithe: (2013-03-01)
• Osteogenesis imperfecta type IV: Prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome
  le: Chih-Ping Chen, et al.
  Foilsithe: (2012-06-01)
• Cerebral Aneurysms in a Patient with Osteogenesis Imperfecta and Exon 28 Polymorphism of COL1A2
  le: Petruzzellis, Marco, et al.
  Foilsithe: (2007)
• Cerebral Aneurysms in a Patient with Osteogenesis Imperfecta and Exon 28 Polymorphism of COL1A2
  le: Fox, Allan, et al.
  Foilsithe: (2007)
• Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene causing osteogenesis imperfecta
  le: Aftab, S A S, et al.
  Foilsithe: (2013)