Splitting p63
Copyright policy )Splitting p63
Causative TP63 mutations have been identified in five distinct human developmental disorders that are characterized by various degrees of limb abnormalities, ectodermal dysplasia, and facial clefts. The distribution of mutations over the various p63 protein domains and the structural and functional implications of these mutations establish a clear genotype-phenotype correlation.
- Radboud University Nijmegen Medical Centre Netherlands
- Radboud University Nijmegen Netherlands
Genotype, Elucidation of hereditary disorders and their molecular diagnosis, Molecular Sequence Data, Mutation, Missense, Smad Proteins, Embryonic and Fetal Development, Genetics, Animals, Humans, Genetics(clinical), Abnormalities, Multiple, Genes, Tumor Suppressor, Serrate-Jagged Proteins, Amino Acid Sequence, Calcium-Binding Proteins, Membrane Proteins, Phosphoproteins, Protein Structure, Tertiary, DNA-Binding Proteins, Phenotype, Gene Expression Regulation, Mutation, Intercellular Signaling Peptides and Proteins, Opheldering van erfelijke ziekten en hun moleculaire diagnostiek
Genotype, Elucidation of hereditary disorders and their molecular diagnosis, Molecular Sequence Data, Mutation, Missense, Smad Proteins, Embryonic and Fetal Development, Genetics, Animals, Humans, Genetics(clinical), Abnormalities, Multiple, Genes, Tumor Suppressor, Serrate-Jagged Proteins, Amino Acid Sequence, Calcium-Binding Proteins, Membrane Proteins, Phosphoproteins, Protein Structure, Tertiary, DNA-Binding Proteins, Phenotype, Gene Expression Regulation, Mutation, Intercellular Signaling Peptides and Proteins, Opheldering van erfelijke ziekten en hun moleculaire diagnostiek
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