Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein

Clinical Genetics

Volumn 51, Issue 4, 1997, Pages 219-224

  Susic, Slavovic ^a   McGrory, Joel ^a   Ahier, Janet ^a   Cole, William G ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Chondrodysplasia; Mutation detection

Indexed keywords

LYSINE; MATRIX PROTEIN; VALINE;

ACHONDROPLASIA; AMINO ACID SUBSTITUTION; ARTICLE; BONE DYSPLASIA; CARTILAGE MATRIX; CASE REPORT; CHILD; EPIPHYSIS; EXON; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 0030990088     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1997.tb02458.x     Document Type: Article

References (20)

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