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Journal Article
Journal Article
Genetics in Medicine, ISSN 1098-3600, 04/2018, Volume 20, Issue 4, pp. 411 - 419
PurposeOsteogenesis imperfecta (OI) is a heritable skeletal dysplasia. Dominant pathogenic variants in COL1A1 and COL1A2 explain the majority of OI cases. At... 
COPII | bone | OASIS | osteogenesis imperfecta | CREB3L1 | Binding sites | bone development | secretion
Journal Article
Journal Article
Annual Review of Genetics, ISSN 0066-4197, 01/2012, Volume 46, p. 475
  More than 90% of people who have osteogenesis imperfecta (OI) have heterozygous mutations in one of the two type I collagen genes, COL1A1 and COL1A2. The... 
Genetic disorders | Collagen | Genetics | Mutation | Bone diseases
Journal Article
Annual Review of Genetics, ISSN 0066-4197, 01/2012, Volume 46, pp. 475 - 475
More than 90% of people who have osteogenesis imperfecta (OI) have heterozygous mutations in one of the two type I collagen genes, COL1A1 and COL1A2. The... 
Journal Article
The American Journal of Surgical Pathology, ISSN 0147-5185, 05/2016, Volume 40, Issue 5, pp. 714 - 718
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 2010, Volume 5, Issue 5, p. e10560
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 01/2013, Volume 22, Issue 1, pp. 1 - 17
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 04/2011, Volume 20, Issue 8, pp. 1595 - 1609
Recessive mutations in the cartilage-associated protein (CRTAP), leucine proline-enriched proteoglycan 1 (LEPRE1) and peptidyl prolyl cis-trans isomerase B... 
MOLECULAR CHARACTERIZATION | PROLYL 3-HYDROXYLATION | BRUCK-SYNDROME | DOMAIN | CRTAP | CARBOXYL-TERMINAL PROPEPTIDE | PEPTIDE-BONDS | BIOCHEMISTRY & MOLECULAR BIOLOGY | COLLAGEN TRIPLE-HELIX | GENETICS & HEREDITY | PRO-ALPHA-1(I) CHAIN | IDENTIFICATION | Sequence Deletion | Proline - metabolism | Protein Disulfide-Isomerases - metabolism | Humans | Collagen Type I - secretion | Molecular Sequence Data | Osteogenesis Imperfecta - genetics | Infant | Femur - diagnostic imaging | Femur - abnormalities | Procollagen-Proline Dioxygenase - metabolism | Ribs - abnormalities | Ribs - diagnostic imaging | Base Sequence | Skull - abnormalities | Protein Stability | Child | Extracellular Matrix Proteins - metabolism | Infant, Newborn | Fibroblasts - metabolism | Amino Acid Sequence | Collagen Type I - metabolism | Hydroxylation | Extracellular Matrix Proteins - genetics | Cells, Cultured | Cyclophilins - genetics | Procollagen - metabolism | Osteogenesis Imperfecta - mortality | Membrane Glycoproteins - genetics | Radiography | Proline-Rich Protein Domains | Phenotype | Pedigree | Skull - diagnostic imaging | Adolescent | Protein Processing, Post-Translational | Proteoglycans - genetics | Peptidylprolyl isomerase | Proteoglycans | Fibroblasts | Osteogenesis imperfecta | Protein disulfide-isomerase | procollagen | Infants | Skin | Leucine | Mutation | Endoplasmic reticulum | Procollagen-proline dioxygenase
Journal Article