Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia

Nature Genetics

Volumn 16, Issue 3, 1997, Pages 307-310

  Lee, B ^a   Thirunavukkarasu, K ^a   Zhou, L ^a   Pastore, L ^a   Baldini, A ^a   Hecht, J ^a   Geoffroy, V ^a   Ducy, P ^a   Karsenty, G ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE DEVELOPMENT; CELL DIFFERENTIATION; CHROMOSOME 6P; CLEIDOCRANIAL DYSPLASIA; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; HUMAN; MISSENSE MUTATION; OSSIFICATION; OSTEOBLAST; PRIORITY JOURNAL; PROTEIN DNA BINDING;

AMINO ACID SEQUENCE; BONE AND BONES; CELL DIFFERENTIATION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 6; CLEIDOCRANIAL DYSPLASIA; CORE BINDING FACTOR ALPHA 1 SUBUNIT; DNA; FEMALE; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NEOPLASM PROTEINS; OSTEOBLASTS; PHENOTYPE; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS; TUMOR CELLS, CULTURED;

EID: 0030927622     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0797-307     Document Type: Article

References (30)