Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.

Sergouniotis, Panagiotis I

Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. [electronic resource] - American journal of human genetics May 2014 - 760-9 p. digital

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

1537-6605

10.1016/j.ajhg.2014.04.003 doi


Adult
Alleles
Animals
Carrier Proteins--genetics
Female
Genes, Recessive
Genetic Variation
Humans
Male
Mice
Middle Aged
Mutation
Pedigree
Peptide Synthases--genetics
Retinal Dystrophies--genetics