Concepedia

Complete COL1A1 allele deletions in osteogenesis imperfecta

Fleur S. van Dijk, Margriet Huizer, Ariana Kariminejad, Carlo Marcelis, Astrid S. Plomp, Hanne Meijers‐Heijboer, Marjan M. Weiss, Rick R. van Rijn, Jan M. Cobben, Gerard Pals

Genetics in Medicine · 2010 · 42 citations · 22 references

DOI

Concepts

References

22

The Human Genome Browser at UCSC

W. James Kent, Charles W. Sugnet, Terrence S. Furey et al. · Genome Research · 2002 · 10.9K citations · Full text

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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

Jan P. Schouten · Nucleic Acids Research · 2002 · 2.7K citations · Full text

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Genetic heterogeneity in osteogenesis imperfecta.

David Sillence, A Senn, D. M. Danks · Journal of Medical Genetics · 1979 · 2.2K citations · Full text

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Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

Wayne A. Cabral, Weizhong Chang, Aileen M. Barnes et al. · Nature Genetics · 2007 · 483 citations · Full text

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Deficiency of Cartilage-Associated Protein in Recessive Lethal Osteogenesis Imperfecta

Aileen M. Barnes, Weizhong Chang, Roy Morello et al. · New England Journal of Medicine · 2006 · 350 citations · Full text

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