Variable clinical expression in a family with OI type IV due to deletion of three base pairs in COL1A1

Clinical Genetics

Volumn 50, Issue 5, 1996, Pages 304-309

  Lund, Allan M ^a   Schwartz, Marianne ^a   Skovby, Flemming ^a  

^a University of Copenhagen   (Denmark)

Author keywords

COL1A1; Collagen I; Deletion; Dentinogenesis imperfecta; Genetic counselling; Osteogenesis imperfecta

Indexed keywords

COLLAGEN TYPE 1; CYANOGEN BROMIDE; MUTANT PROTEIN; PROCOLLAGEN;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; FIBROBLAST CULTURE; GENE DELETION; HUMAN; HUMAN CELL; MALE; OSTEOGENESIS IMPERFECTA; PEPTIDE MAPPING; PRIORITY JOURNAL; RESTRICTION MAPPING; SHORT STATURE;

EID: 0030475863     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1996.tb02379.x     Document Type: Article

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