Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta

Osteogenesis imperfecta or “brittle bone disease” is a congenital disorder of connective tissue causing the bone to break easily. Around 85–90% of cases are due to autosomal dominant mutations in the genes encoding type I collagen, the major organic component of bone. Genotype–phenotype correlations...

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Bibliografische gegevens
Gepubliceerd in:Calcif Tissue Int
Hoofdauteurs: Lindert, U., Gnoli, M., Maioli, M., Bedeschi, M.F., Sangiorgi, L., Rohrbach, M., Giunta, C.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer US 2017
Onderwerpen:
Case Reports
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5818590/
https://ncbi.nlm.nih.gov/pubmed/29101475
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00223-017-0359-z
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