Associated Papers
Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate.
Besio R et al.
Disease Models & Mechanisms, 2019
Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations.
Caparrós-Martin JA et al.
American Journal of Medical Genetics. Part A, 2013
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