Intrafamilial variable expressivity of osteogenesis imperfecta due to mosaicism for a lethal G382R substitution in the COL1A1 gene

Molecular and Cellular Probes

Volumn 10, Issue 3, 1996, Pages 219-225

  Cohen Solal, Lola ^a   Zolezzi, Francesca ^c   Pignatti, Pier Franco ^c   Mottes, Monica ^b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b Institute of Biology and Genetics   (Italy)

^c NONE

Author keywords

Collagen genes; Mosaicism; Osteogenesis imperfecta

Indexed keywords

MUTANT PROTEIN; PROCOLLAGEN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FETUS; FIBROBLAST; FIBROBLAST CULTURE; HUMAN; HUMAN CELL; LETHAL MUTANT; MALE; MOSAICISM; OSTEOGENESIS IMPERFECTA; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SKIN FIBROBLAST;

EID: 0029940296     PISSN: 08908508     EISSN: None     Source Type: Journal    
DOI: 10.1006/mcpr.1996.0030     Document Type: Article

References (22)

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