A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia.
Giannotti
A
A
Dept. of Genetics, Metabolism, and Molecular Medicine, Children's Hospital "Bambino Gesù", Rome, Italy.
Tessa
A
A
Patrono
C
C
Florio
L D
LD
Velardo
M
M
Dionisi-Vici
C
C
Bertini
E
E
Santorelli
F M
FM
D019943:Amino Acid Substitution / Q000235:genetics*; D001120:Arginine / Q000235:genetics; D002973:Cleidocranial Dysplasia / Q000235:genetics*; D050659:Core Binding Factor Alpha 1 Subunit; D006801:Humans; D007558:Italy; D020125:Mutation, Missense / Q000235:genetics*; D009363:Neoplasm Proteins; D014157:Transcription Factors / Q000235:genetics*; D014364:Tryptophan / Q000235:genetics
D050659:Core Binding Factor Alpha 1 Subunit; D009363:Neoplasm Proteins; D014157:Transcription Factors; D014364:Tryptophan; D001120:Arginine