Condition: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
rs1554395471 in
COL1A2 gene and
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
PMID 2993307 1985 A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain.
PMID 6092353 1984 Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.
PMID 16816023 2006 Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.
PMID 27510842 2017 Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes.
PMID 3372533 1988 Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta.
PMID 19344236 2009 Collagen structure and stability.
PMID 8218237 1993 Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.
PMID 9016532 1997 The human type I collagen mutation database.
PMID 17078022 2007 Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
PMID 7695699 1994 Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.
PMID 24668929 2014 Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.
PMID 18996919 2009 Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
PMID 27509835 2016 DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.
PMID 1990009 1991 The effects of different cysteine for glycine substitutions within alpha 2(I) chains. Evidence of distinct structural domains within the type I collagen triple helix.
PMID 11359465 2001 Recurrent mutations in the COL1A2 gene in patients with osteogenesis imperfecta.
PMID 16786509 2006 Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
PMID 16879195 2006 Osteogenesis imperfecta: clinical, biochemical and molecular findings.
PMID 9099837 1997 Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes.
rs1564455577 in
COL5A1 gene and
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
PMID 23587214 2013 Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.
PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.
rs1559085564 in
COL5A2 gene and
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
PMID 8218237 1993 Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.
PMID 19344236 2009 Collagen structure and stability.
PMID 22696272 2012 Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.
PMID 7695699 1994 Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.
PMID 23587214 2013 Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.
rs1564482508 in
LOC101448202;COL5A1 gene and
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
PMID 23587214 2013 Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.