[Analysis of TCOF1 gene of eight Japanese patients with Treacher Collins syndrome].
Horiuchi
Katsumi
K
Hokkaido University Graduate School of Medicine, Sapporo 060-8638, Japan.
D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D003001:Cloning, Molecular; D004247:DNA / Q000032:analysis; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010750:Phosphoproteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
D009687:Nuclear Proteins; D010750:Phosphoproteins; C105442:TCOF1 protein, human; D004247:DNA