Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV

Acta Paediatrica, International Journal of Paediatrics

Volumn 86, Issue 7, 1997, Pages 711-718

  Lund, A M ^a   Nicholls, A C ^b   Schwartz, M ^a   Skovby, F ^a  

^a Rigshospitalet   (Denmark)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Collagen; Dominant; Genetic counselling; Mosaicism; Osteogenesis imperfecta

Indexed keywords

COLLAGEN TYPE 1;

ALLELE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CLINICAL ARTICLE; COLLAGEN METABOLISM; CONNECTIVE TISSUE DISEASE; EXTRACELLULAR MATRIX; FIBROBLAST; GENETIC COUNSELING; HUMAN; MOLECULAR INTERACTION; MOSAICISM; MULTIGENE FAMILY; OSTEOGENESIS IMPERFECTA; PRIORITY JOURNAL; PROTEIN FAMILY; PROTEIN PROTEIN INTERACTION;

EID: 0030742706     PISSN: 08035253     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1651-2227.1997.tb08573.x     Document Type: Article

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