| Avtor/Urednik | Sergouniotis, Panagiotis I.; Lenassi, Eva | |
| Naslov | Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy | |
| Tip | članek | |
| Vol. in št. | Letnik 94, št. 5 | |
| Leto izdaje | 2014 | |
| Obseg | str. 760-769 | |
| ISSN | 0002-9297 - American journal of human genetics | |
| Jezik | eng | |
| Proste vsebinske oznake | inherited retinal degenerations retinal dystrophy mutations |