Novel COL1A1 mutation (G599C) associated with mild osteogenesis imperfecta and dentinogenesis imperfecta

Archives of Oral Biology

Volumn 46, Issue 5, 2001, Pages 459-470

  Pallos, D ^a   Hart, P S ^b   Cortelli, J R ^a   Vian, S ^c   Wright, J T ^d   Korkko, J ^e   Brunoni, D ^f   Hart, T C ^b  

^a UNIVERSITY OF TAUBATÉ   (Brazil)

^b UNIVERSITY OF PITTSBURGH   (United States)

^c School of Dentistry   (Brazil)

^d UNIVERSITY OF NORTH CAROLINA   (United States)

^e DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

^f FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Chromosome 17q21; Collagen 1A1, Osteogenesis imperfecta; Dentinogenesis imperfecta; Joint hyperflexibility; Joint pain

Indexed keywords

COL1A1 PROTEIN; COLLAGEN; COLLAGEN TYPE 1; CYSTEINE; GLYCINE; PROTEIN COL1A1; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRAZIL; CHROMOSOME 17; CHROMOSOME 17Q; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE ASSOCIATION; FEMALE; GENE MUTATION; GENETIC LINKAGE; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; JOINT INSTABILITY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OSTEOGENESIS IMPERFECTA; PEDIGREE; PHENOTYPE; TOOTH DEVELOPMENT; TOOTH MALFORMATION;

AMINO ACID SUBSTITUTION; BRAZIL; CHROMOSOMES, HUMAN, PAIR 17; COLLAGEN; COLLAGEN TYPE I; CYSTEINE; DENTINOGENESIS IMPERFECTA; DNA MUTATIONAL ANALYSIS; FEMALE; GLYCINE; HUMANS; JOINT INSTABILITY; LOD SCORE; MALE; MUTATION, MISSENSE; OSTEOGENESIS IMPERFECTA; PEDIGREE;

EID: 0035070524     PISSN: 00039969     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0003-9969(00)00130-8     Document Type: Article

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