Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma. [electronic resource]
Producer: 20130509Description: 563-8 p. digitalISSN:- 1468-6244
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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