Mutation analysis of the SOX9 gene in a patient with campomelic dysplasia

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Hageman, Robyn M ^a   Cameron, Fergus J ^a   Sinclair, Andrew H ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Campomelic dysplasia; Mutation analysis; SOX9

Indexed keywords

ARTICLE; BONE DYSPLASIA; CASE REPORT; CHILD; CLEFT PALATE; CONGENITAL MALFORMATION; FACE DYSMORPHIA; GENE MUTATION; GENE SEQUENCE; HUMAN; MALE; MICROGNATHIA; PES EQUINOVARUS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; ADULT; CHEMISTRY; CHONDRODYSPLASIA; FATALITY; FEMALE; GENETICS; INFANT; NUCLEOTIDE SEQUENCE; PATHOLOGY; POINT MUTATION; PRESCHOOL CHILD; STOP CODON;

DNA; HIGH MOBILITY GROUP PROTEIN; SOX-9 TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR SOX9;

ADULT; CHILD, PRESCHOOL; CODON, TERMINATOR; DNA; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; HIGH MOBILITY GROUP PROTEINS; HUMANS; INFANT; MALE; OSTEOCHONDRODYSPLASIAS; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TRANSCRIPTION FACTORS;

EID: 0031965027     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110137     Document Type: Article

References (9)

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