TY  - GEN
AU  - Hand,Collette K
AU  - McGuire,Mairide
AU  - Parfrey,Nollaig A
AU  - Murphy,Conor C
TI  - Homozygous SLC4A11 mutation in a large Irish CHED2 pedigree
SN  - 1744-5094
PY  - 2017///1113
KW  - Adolescent
KW  - Adult
KW  - Anion Transport Proteins
KW  - genetics
KW  - Antiporters
KW  - Consanguinity
KW  - Corneal Dystrophies, Hereditary
KW  - diagnosis
KW  - DNA Mutational Analysis
KW  - Exons
KW  - Female
KW  - Homozygote
KW  - Humans
KW  - Introns
KW  - Ireland
KW  - epidemiology
KW  - Male
KW  - Middle Aged
KW  - Mutation, Missense
KW  - Pedigree
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.3109/13816810.2016.1151901
ER  -