CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia

Human Molecular Genetics

Volumn 8, Issue 12, 1999, Pages 2311-2316

  Zhou, Guang ^a   Chen, Yuqing ^a   Zhou, Lei ^a   Thirunavukkarasu, Kannan ^a   Hecht, Jacqueline ^g   Chitayat, David ^b   Gelb, Bruce D ^c   Pirinen, Sinikka ^d   Berry, Susan A ^e   Greenberg, Cheryl R ^f   Karsenty, Gerard ^a   Lee, Brendan ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TORONTO GENERAL HOSPITAL   (Canada)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF HELSINKI   (Finland)

^e UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^f UNIVERSITY OF MANITOBA   (Canada)

^g NONE

Author keywords

[No Author keywords available]

Indexed keywords

DNA BINDING PROTEIN; TRANSCRIPTION FACTOR;

ARTICLE; CLEIDOCRANIAL DYSPLASIA; CLINICAL ARTICLE; DOMINANT INHERITANCE; GENETIC VARIABILITY; HUMAN; MISSENSE MUTATION; OSTEOBLAST; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; TOOTH MALFORMATION;

ANIMALS; BASE SEQUENCE; CLEIDOCRANIAL DYSPLASIA; CORE BINDING FACTOR ALPHA 1 SUBUNIT; COS CELLS; DNA, COMPLEMENTARY; FEMALE; HUMANS; MALE; MICE; MUTAGENESIS; MUTATION; NEOPLASM PROTEINS; PEDIGREE; PHENOTYPE; TRANSCRIPTION FACTORS;

EID: 0032718003     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.12.2311     Document Type: Article

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