Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I.-Reference-Cited by-同舟云学术

Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I.

Published:1995-09-01 Issue:9 Volume:32 Page:697-700
ISSN:1468-6244
Container-title:Journal of Medical Genetics
language:en
Short-container-title:Journal of Medical Genetics

Author:

Willing M C,Slayton R L,Pitts S H,Deschenes S P

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference37 articles.

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

2. Altered relation of two collagen types in osteogenesis imperfecta;Sykes, B.; Francis, M.; Phil, D.; Smith, R.;N Engl J Med,1977

3. Distinct biochemical phenotypes predict clinical severity in nonlethal variants ofosteogenesis imperfecta;Wenstrup, R.J.; Willing, M.C.; Starman, B.J.; Byers, P.H.;AmJHum Genet,1990

4. Type I osteogenesis imperfecta: a nonfunctional allele for proaal (I) chains of;Barsh, G.S.; David, K.E.; Byers, P.H.,1982

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

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Long-term evaluation of anabolic and anti-resorptive agents in adults with familial osteoporosis due to pro205ala variant of the col1a1 gene;Osteoporosis International;2021-04-02

2. The Interaction Between Sillence Type and BMD in Osteogenesis Imperfecta;Calcified Tissue International;2003-09-10

3. 5′ Stem-Loop of Collagen α1(I) mRNA Inhibits Translationin Vitro but Is Required for Triple Helical Collagen Synthesis in Vivo;Journal of Biological Chemistry;2003-01

4. Mutations in the COL5A1 Coding Sequence Are Not Common in Patients With Spontaneous Cervical Artery Dissections;Stroke;1999-09

5. A four base pair insertion polymorphism in the 3′ untranslated region of the COL1A1 gene is highly informative for null-allele testing in patients with osteogenesis imperfecta type I;Matrix Biology;1998-01