TY  - GEN
AU  - Sergouniotis,Panagiotis I
AU  - Chakarova,Christina
AU  - Murphy,Cian
AU  - Becker,Mirjana
AU  - Lenassi,Eva
AU  - Arno,Gavin
AU  - Lek,Monkol
AU  - MacArthur,Daniel G
AU  - Bhattacharya,Shomi S
AU  - Moore,Anthony T
AU  - Holder,Graham E
AU  - Robson,Anthony G
AU  - Wolfrum,Uwe
AU  - Webster,Andrew R
AU  - Plagnol,Vincent
TI  - Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy
SN  - 1537-6605
PY  - 2014///0627
KW  - Adult
KW  - Alleles
KW  - Animals
KW  - Carrier Proteins
KW  - genetics
KW  - Female
KW  - Genes, Recessive
KW  - Genetic Variation
KW  - Humans
KW  - Male
KW  - Mice
KW  - Middle Aged
KW  - Mutation
KW  - Pedigree
KW  - Peptide Synthases
KW  - Retinal Dystrophies
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2014.04.003
ER  -