Celli, J

Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. [electronic resource] - Cell Oct 1999 - 143-53 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

0092-8674

10.1016/s0092-8674(00)81646-3 doi


Abnormalities, Multiple--genetics
Amino Acid Sequence
Amino Acid Substitution
Chromosome Mapping
Chromosomes, Human, Pair 3
DNA-Binding Proteins
Ectodermal Dysplasia--genetics
Face--abnormalities
Female
Foot Deformities, Congenital--genetics
Genes, Tumor Suppressor
Genes, p53
Genetic Markers
Germ-Line Mutation
Hand Deformities, Congenital--genetics
Humans
Male
Membrane Proteins
Models, Molecular
Molecular Sequence Data
Mutation, Missense
Pedigree
Phosphoproteins--chemistry
Protein Structure, Secondary
Sequence Alignment
Sequence Homology, Amino Acid
Syndrome
Trans-Activators
Transcription Factors
Tumor Suppressor Proteins