Gene Symbol
Gene Name
Aliases
Previous_Symbol
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MeSH term
Frequency
Condition_Probility
DNA Mutational Analysis
Epidermolysis Bullosa Simplex/*genetics/pathology
Humans
Male
Pedigree
*Point Mutation
Amino Acid Sequence
Cells, Cultured
Epidermolysis Bullosa Simplex/*genetics
Keratin/chemistry/*genetics
Molecular Sequence Data
Phenotype
Research Support, Non-U.S. Gov't
Gene Amplification
Keratin/*genetics
Point Mutation
Adult
Base Sequence
Child
Female
Infant
Microscopy, Electron
Heterozygote
*Mutation, Missense
Polymerase Chain Reaction
Alleles
Gene Expression
Mutation
Research Support, U.S. Gov't, P.H.S.
*Chromosomes, Human, Pair 12
Hybrid Cells
*Frameshift Mutation
Gene Deletion