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

✍ Scribed by Chisato Namikawa; Kaoru Sozumori; Yoshimitsu Fukushima; Makoto Sasaki; Akira Hata

Publisher
Springer
Year
1995
Tongue
English
Weight
740 KB
Volume
95
Category
Article
ISSN
0340-6717

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## Clinical Data on Patients KO was 35 years of age at the time her cell strain was sent to us. She was born to healthy unrelated parents and has two healthy siblings, both of whom have unaffected children, and no other individuals with 0 1 were identified in the family. She had many fractures at