New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia

Clinical Genetics

Volumn 61, Issue 5, 2002, Pages 349-353

  Machuca Tzili, L ^a   Monroy Jaramillo, N ^a   Gonzalez del Angel A ^b   Kofman Alfaro, Susana ^a  

^a UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

^b INSTITUTO NACIONAL DE PEDIATRÍA   (Mexico)

Author keywords

Bone development; CBFA1; Cleidocranial dysplasia; Osteoblast differentiation

Indexed keywords

CORE BINDING FACTOR; CORE BINDING FACTOR ALPHA 1; DNA; UNCLASSIFIED DRUG;

ADOLESCENT; ALLELE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLEIDOCRANIAL DYSPLASIA; CLINICAL FEATURE; DISEASE SEVERITY; DNA BINDING; DNA DETERMINATION; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; MALE; MEXICO; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SHORT SURVEY; STOP CODON;

ADOLESCENT; CHILD, PRESCHOOL; CLEIDOCRANIAL DYSPLASIA; CORE BINDING FACTOR ALPHA 1 SUBUNIT; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MEXICO; MOLECULAR SEQUENCE DATA; MUTATION; NEOPLASM PROTEINS; POLYMORPHISM, GENETIC; TRANSCRIPTION FACTORS;

EID: 0036590210     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.610505.x     Document Type: Short Survey

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