A nonsense mutation in TRPS1 in a Japanese family with tricho-rhino-phalangeal syndrome type I.
Hatamura
I
I
Kanauchi
Y
Y
Takahara
M
M
Fujiwara
M
M
Muragaki
Y
Y
Ooshima
A
A
Ogino
T
T
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D018389:Codon, Nonsense; D019465:Craniofacial Abnormalities / Q000473:pathology*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D004838:Epiphyses / Q000002:abnormalities*; D005192:Family Health; D005260:Female; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D007564:Japan; D008297:Male; D009363:Neoplasm Proteins; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D012097:Repressor Proteins; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid; D013577:Syndrome; D014157:Transcription Factors
D018389:Codon, Nonsense; D004268:DNA-Binding Proteins; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D012333:RNA, Messenger; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors