M Balasubramanian J Hurst S Brown N J Bishop P Arundel C DeVile R C Pollitt L Crooks D Longman J F Caceres F Shackley S Connolly J H Payne A C Offiah D Hughes DDD Study M J Parker W Hide T M Skerry
10.1016/j.bone.2016.10.023
Bone
2017 Jan;94:65-74.
bone collagen expression fragility nbas nonsense mediated decay (nmd) osteogenesis imperfecta secretory pathway
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/27789416/
Mutation / genetics Neoplasm Proteins / genetics Osteogenesis Imperfecta / genetics
Mutation / genetics Neoplasm Proteins / genetics Osteogenesis Imperfecta / genetics Case Reports Base Sequence Cells, Cultured Child Child, Preschool Fibroblasts / pathology Heterozygote Humans Infant Infant, Newborn Male Neoplasm Proteins / chemistry Osteogenesis Imperfecta / diagnostic imaging Protein Domains Skin / pathology Skin / ultrastructure NBAS protein, human Neoplasm Proteins
PMC6067660
27789416
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta
2017