Literature DB >> 27264419

Distinctive skeletal phenotype in high bone mass osteogenesis imperfecta due to a COL1A2 cleavage site mutation.

Gen Nishimura1, Masahiro Nakajima2, Kazuharu Takikawa3, Nobuhiko Haga4, Shiro Ikegawa2.   

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Year:  2016        PMID： 27264419     DOI： 10.1002/ajmg.a.37744

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  2 in total

1.  A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern.

Authors:  T Rolvien; U Kornak; J Stürznickel; T Schinke; M Amling; S Mundlos; R Oheim
Journal:  Osteoporos Int       Date:  2017-09-15       Impact factor: 4.507

2.  Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype.

Authors:  Tim Cundy; Michael Dray; John Delahunt; Jannie Dahl Hald; Bente Langdahl; Chumei Li; Marta Szybowska; Shehla Mohammed; Emma L Duncan; Aideen M McInerney-Leo; Patricia G Wheeler; Paul Roschger; Klaus Klaushofer; Jyoti Rai; MaryAnn Weis; David Eyre; Ulrike Schwarze; Peter H Byers
Journal:  J Bone Miner Res       Date:  2018-04-18       Impact factor: 6.741
  2 in total

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