Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.

Author:

Wallis G A,Sykes B,Byers P H,Mathew C G,Viljoen D,Beighton P

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference40 articles.

1. Genetic heterogeneity in osteogenesis imperfecta;Sillence, D.O.; Senn, A.; Danks, D.M.;Med Genet,1979

2. Disorders of collagen biosynthesis and structure;Byers, P.H.,1989

3. Osteogenesis imperfecta type III: delineation of the phenotype with reference to genetic heterogeneity;Sillence, D.O.; Barlow, K.K.; Cole, W.G.; Dietrich, S.; Garber, A.P.; Rimoin, D.L.;Am J Med Genet,1986

4. Molecular basis of clinical heterogeneity in nonlethal variants of osteogenesis imperfecta: distinct biochemical phenotypes predict clinical severity;Wenstrup, R.J.; Willing, M.C.; Starman, B.J.; Byers, P.H.;Am Jf Hum Genet,1990

5. Osteogenesis imperfecta: the position of substitution for glycine by cysteine in the triple helical domain of the proa l(I) chains of type I collagen determines clinical phenotype;Starman, B.J.; Eyre, D.; Charbonneau, H.;Clin Invest,1989

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