Homozygous SLC4A11 mutation in a large Irish CHED2 pedigree. [electronic resource]
Producer: 20171113Description: 148-151 p. digitalISSN:- 1744-5094
- Adolescent
- Adult
- Anion Transport Proteins -- genetics
- Antiporters -- genetics
- Consanguinity
- Corneal Dystrophies, Hereditary -- diagnosis
- DNA Mutational Analysis
- Exons -- genetics
- Female
- Homozygote
- Humans
- Introns -- genetics
- Ireland -- epidemiology
- Male
- Middle Aged
- Mutation, Missense
- Pedigree
- Young Adult
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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