Recurrence of osteogenesis imperfecta because of paternal mosaicism: Gly862-->Ser substitution in a type I collagen gene (COL1A1).

doi:10.1007/BF00209484

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Article

Recurrence of osteogenesis imperfecta because of paternal mosaicism: Gly862-->Ser substitution in a type I collagen gene (COL1A1).

Human genetics - 1 Jun 1995

Namikawa C, Suzumori K, Fukushima Y, Sasaki M, Hata A

Abstract excerpt

We determined that two siblings with type III osteogenesis imperfecta (OI) had the same single base substitution that converted the codon for glycine (Gly) 862 to a codon for serine (Ser) in exon 44 of the alpha 1 chain of the type I (alpha 1(I)) collagen gene (COL1A1). The mutation was also dete...

Topics

Adult
Alleles
Base Sequence
Collagen
DNA, Complementary
Female
Humans
Infant, Newborn
Infant, Premature, Diseases
Male
Molecular Sequence Data
Mosaicism
Mutation
Osteogenesis Imperfecta
Tissue Distribution

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