Gly511 to Ser substitution in the COL1A1 gene in osteogenesis imperfecta type III patient with increased turnover of collagen

Molecular and Cellular Biochemistry

Volumn 248, Issue 1-2, 2003, Pages 49-56

  Galicka, Anna ^a   Wołczyński, Sławomir ^a   Gindzieński, Andrzej ^a   Surazyński, Arkadiusz ^a   Pałka, Jerzy ^a  

^a MEDICAL UNIVERSITY OF BIALYSTOK   (Poland)

Author keywords

Collagen; Glycine substitution; Osteogenesis imperfecta; Prolidase

Indexed keywords

AMINO ACID; BETA1 INTEGRIN; BIOLOGICAL MARKER; COLLAGEN; GLYCINE; MUTANT PROTEIN; PROCOLLAGEN; PROLINE DIPEPTIDASE; SERINE; SOMATOMEDIN RECEPTOR;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BIOCHEMISTRY; COLLAGEN DEGRADATION; COLLAGEN METABOLISM; COLLAGEN SYNTHESIS; CONTROLLED STUDY; CULTURE MEDIUM; DISEASE SEVERITY; ENZYME ACTIVITY; FEMALE; GENE AMPLIFICATION; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; HUMAN TISSUE; LETHALITY; MOLECULAR BIOLOGY; OSTEOGENESIS IMPERFECTA; PHENOTYPE; PRESCHOOL CHILD; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN METABOLISM; PROTEIN SECRETION; REGULATORY MECHANISM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SKIN FIBROBLAST; WESTERN BLOTTING;

ANTIGENS, CD29; BLOTTING, WESTERN; CHILD, PRESCHOOL; COLLAGEN; COLLAGEN TYPE I; CULTURE MEDIA; CULTURE MEDIA, CONDITIONED; DIPEPTIDASES; DNA, COMPLEMENTARY; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FAMILY HEALTH; FEMALE; FIBROBLASTS; GENOTYPE; GLYCINE; HETEROZYGOTE; HUMANS; MODELS, GENETIC; MUTATION; OSTEOGENESIS IMPERFECTA; PHENOTYPE; POLYMERASE CHAIN REACTION; RECEPTOR, IGF TYPE 1; SERINE; SKIN;

EID: 0037966334     PISSN: 03008177     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1024197213525     Document Type: Article

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