Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type i

European Journal of Human Genetics

Volumn 18, Issue 6, 2010, Pages 642-647

  Rauch, Frank ^a   Lalic, Liljana ^a   Roughley, Peter ^a   Glorieux, Francis H ^a  

^a SHRINERS HOSPITAL FOR CHILDREN   (Canada)

Author keywords

COL1A1; COL1A2; Collagen type I; Genotype phenotype; OI

Indexed keywords

COLLAGEN TYPE 1; COLLAGEN TYPE 1A1; COLLAGEN TYPE 1A2; GLYCINE; SERINE; UNCLASSIFIED DRUG;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; BODY HEIGHT; BODY WEIGHT; CONTROLLED STUDY; FEMALE; FRACTURE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MUSCULOSKELETAL DISEASE; NUCLEOTIDE SEQUENCE; OSTEOGENESIS IMPERFECTA; PRIORITY JOURNAL; SCLERA; TOOTH MALFORMATION;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COLLAGEN; COLLAGEN TYPE I; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; OSTEOGENESIS IMPERFECTA; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; YOUNG ADULT;

EID: 77952672567     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.242     Document Type: Article

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