Single base pair alterations as the predominant category of mutation in type I osteogenesis imperfecta.

Author:

Brookes A J,Sykes B,Solomon E

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference6 articles.

1. Osteogenesis imperfecta is linked to both type I collagen structural genes;Sykes, B.; Ogilvie, D.; Wordsworth, P.; Anderson, J.; Jones, N.;Lancet,1986

2. Diminished type I collagen synthesis and reduced alpha 1(1) collagcn messenger RNA in cultured fibroblasts from patients with dominantly inherited (type I) osteogenesis imperfecta;Rowe, D.W.; Shapiro, JR, Poirier; M, Schlesinger; S.;J Clin Invest,1985

3. Type I osteogenesis imperfecta: a nonfunctional allelc for proal(l) chains of;Barsh, G.S.; David, K.E.; Byers, P.H.,1982

4. Osteogcnesis imperfecta;Cole, W.G.,1988

5. A ncw method for detection of small modifications in genomic DNA, applied to the human b-0 globin gene clustcr;Chebloune, Y.; Trabuchet, G.; Poncet, D.;Eur J Biochem; Brookes AJ, Solomon E. Evaluation of the use of S1 nuclease to detect small length variations in genomic DNA,1984

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