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. [electronic resource]
Producer: 20030108Description: 1202-3 p. digitalISSN:- 0022-202X
- Adult
- Child, Preschool
- DNA Mutational Analysis
- DNA-Binding Proteins
- Ectodermal Dysplasia -- genetics
- Female
- Genes, Tumor Suppressor
- Genotype
- Humans
- Limb Deformities, Congenital -- genetics
- Male
- Membrane Proteins
- Phenotype
- Phosphoproteins -- genetics
- Point Mutation
- Trans-Activators -- genetics
- Transcription Factors
- Tumor Suppressor Proteins
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Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
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