Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma.

Guo, Bi-Rong

Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma. [electronic resource] - Journal of medical genetics Sep 2012 - 563-8 p. digital

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

1468-6244

10.1136/jmedgenet-2012-100868 doi


Adult
Amino Acid Sequence
Asian People--genetics
China
Collagen--genetics
DNA Mutational Analysis--methods
Exome--genetics
Female
Genome, Human--genetics
Glycoproteins--genetics
Humans
Keratoderma, Palmoplantar--genetics
Male
Molecular Sequence Data
Mutation--genetics
Pedigree
Polymorphism, Single Nucleotide--genetics