Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle.
Splendore
A
A
Jabs
E W
EW
Passos-Bueno
M R
MR
D002874:Chromosome Mapping; D004252:DNA Mutational Analysis / Q000379:methods; D005820:Genetic Testing / Q000379:methods*; D005828:Genetics, Population; D006801:Humans; D008342:Mandibulofacial Dysostosis / Q000235:genetics; D020125:Mutation, Missense / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics* / Q000502:physiology*; D010750:Phosphoproteins / Q000235:genetics* / Q000502:physiology*; D018807:Polymorphism, Single-Stranded Conformational; D017433:Protein Structure, Secondary / Q000235:genetics / Q000502:physiology
D009687:Nuclear Proteins; D010750:Phosphoproteins; C105442:TCOF1 protein, human