PEBP2αA/CBFA1 mutations in Japanese cleidocranial dysplasia patients

Gene

Volumn 244, Issue 1-2, 2000, Pages 21-28

  Zhang, Yu Wen ^a   Yasui, Natsuo ^b   Kakazu, Naoki ^c   Abe, Tatsuo ^c   Takada, Kenzo ^d   Imai, Shosuke ^d   Sato, Motohiko ^b   Nomura, Shintaro ^b   Ochi, Takahiro ^b   Okuzumi, Shigeharu ^e   Nogami, Hiroshi ^f   Nagai, Toshiro ^g   Ohashi, Hirohumi ^h   Ito, Yoshiaki ^a  

^a KYOTO UNIVERSITY   (Japan)

^b OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^c KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

^d HOKKAIDO UNIVERSITY   (Japan)

^e KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^f Central Hospital   (Japan)

^g Koshigaya Hospital   (Japan)

^h Saitama Children's Med C   (Japan)

Author keywords

Bone disease; Haploinsufficiency; Osteoblastic differentiation; Osteogenesis; Transcription factor

Indexed keywords

DNA; TRANSCRIPTION FACTOR; DNA BINDING PROTEIN; RUNX2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR AP 2; TRANSCRIPTION FACTOR RUNX2;

ARTICLE; BONE DEVELOPMENT; BONE DISEASE; CELL DIFFERENTIATION; CLEIDOCRANIAL DYSPLASIA; CLINICAL ARTICLE; DNA BINDING; GENE DELETION; GENE MUTATION; HUMAN; HUMAN CELL; JAPAN; MISSENSE MUTATION; NONSENSE MUTATION; OSTEOBLAST; PATHOGENESIS; PRIORITY JOURNAL; AMINO ACID SUBSTITUTION; BINDING SITE; CHEMISTRY; CHROMOSOME 6; FAMILY HEALTH; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; HETEROZYGOTE; MALE; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PROTEIN BINDING;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; BINDING SITES; CHROMOSOMES, HUMAN, PAIR 6; CLEIDOCRANIAL DYSPLASIA; CORE BINDING FACTOR ALPHA 1 SUBUNIT; DNA; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FAMILY HEALTH; FEMALE; HETEROZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; JAPAN; MALE; MUTATION; MUTATION, MISSENSE; PEDIGREE; PROTEIN BINDING; SEQUENCE DELETION; TRANSCRIPTION FACTOR AP-2; TRANSCRIPTION FACTORS;

EID: 0033622171     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0378-1119(99)00558-2     Document Type: Article

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