A novel mutation of gene CBFA1/RUNX2 in cleidocranial dysplasia

Annals of Clinical and Laboratory Science

Volumn 37, Issue 2, 2007, Pages 115-120

  Lo Muzio, Lorenzo ^a,f   Tetè, Stefano ^b   Mastrangelo, Filiberto ^b   Cazzolla, Angela Pia ^c   Lacaita, Maria Grazia ^c   Margaglione, Maurizio ^a,d   Campisi, Giuseppina ^e  

^a UNIVERSITY OF FOGGIA   (Italy)

^b UNIVERSITY OF CHIETI   (Italy)

^c UNIVERSITY OF BARI   (Italy)

^d CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^e UNIVERSITY OF PALERMO   (Italy)

^f NONE   (Italy)

Author keywords

CBFA1 RUNX2 gene; CBFA1 RUNX2 nonsense mutation; Cleidocranial dysplasia

Indexed keywords

ALANINE; THREONINE; TRANSCRIPTION FACTOR RUNX2;

ADOLESCENT; ARTICLE; CASE REPORT; CLEIDOCRANIAL DYSPLASIA; GENE AMPLIFICATION; GENE MUTATION; HUMAN; MALE; PRIORITY JOURNAL;

ADOLESCENT; CHROMOSOMES, HUMAN, PAIR 6; CLEIDOCRANIAL DYSPLASIA; CODON, NONSENSE; CORE BINDING FACTOR ALPHA 1 SUBUNIT; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; GENE SILENCING; HETEROZYGOTE; HUMANS; MALE; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION;

EID: 34248218183     PISSN: 00917370     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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