Common mutations in Arg304 of the p63 gene in ectrodactyly, ectodermal dysplasia, clefting syndrome: lack of genotype-phenotype correlation and implications for mutation detection strategies.
Hamada
Takahiro
T
Chan
Ien
I
Willoughby
Colin E
CE
Goudie
David R
DR
McGrath
John A
JA
D000328:Adult; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D016147:Genes, Tumor Suppressor; D005838:Genotype; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins; D010641:Phenotype; D010750:Phosphoproteins / Q000235:genetics*; D017354:Point Mutation; D015534:Trans-Activators / Q000235:genetics*; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins
C081876:CKAP4 protein, human; D004268:DNA-Binding Proteins; D008565:Membrane Proteins; D010750:Phosphoproteins; C115051:TP63 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins