Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10.

Choate, Keith A

Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. [electronic resource] - Science (New York, N.Y.) Oct 2010 - 94-7 p. digital

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

1095-9203

10.1126/science.1192280 doi


Amino Acid Sequence
Cell Nucleolus--metabolism
Chromosome Mapping
Chromosomes, Human, Pair 17--genetics
Female
Frameshift Mutation
Humans
Ichthyosiform Erythroderma, Congenital--genetics
Intermediate Filaments--metabolism
Keratin-10--chemistry
Keratins--metabolism
Loss of Heterozygosity
Male
Mitosis
Molecular Sequence Data
Mosaicism
Mutant Proteins--chemistry
Recombination, Genetic
Selection, Genetic
Skin--pathology