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

Antzeko izenburuak

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  Argitaratua: (2013-03-01)
• Osteogenesis imperfecta type IV: Prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome
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  Argitaratua: (2012-06-01)
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  Argitaratua: (2007)
• Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene causing osteogenesis imperfecta
  nork: Aftab, S A S, et al.
  Argitaratua: (2013)