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

Panagiotis I. Sergouniotis; Christina Chakarova; Cian Murphy; Mirjana Becker; Eva Lenassi; Gavin Arno; Monkol Lek; Daniel G. MacArthur; Shomi S. Bhattacharya; Anthony T. Moore; Graham E. Holder; Anthony G. Robson; Uwe Wolfrum; Andrew R. Webster; Vincent Plagnol

doi:10.1016/j.ajhg.2014.04.003

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

Panagiotis I. Sergouniotis, Christina Chakarova, Cian Murphy, Mirjana Becker, Eva Lenassi, Gavin Arno, Monkol Lek, Daniel G. MacArthur, Shomi S. Bhattacharya, Anthony T. Moore, Graham E. Holder, Anthony G. Robson, Uwe Wolfrum, Andrew R. Webster, Vincent Plagnol

Division of Evolution, Infection and Genomics

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	760-769
Journal	American Journal of Human Genetics
Volume	94
Issue number	5
DOIs	https://doi.org/10.1016/j.ajhg.2014.04.003
Publication status	Published - 1 May 2014

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10.1016/j.ajhg.2014.04.003

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Sergouniotis, P. I., Chakarova, C., Murphy, C., Becker, M., Lenassi, E., Arno, G., Lek, M., MacArthur, D. G., Bhattacharya, S. S., Moore, A. T., Holder, G. E., Robson, A. G., Wolfrum, U., Webster, A. R., & Plagnol, V. (2014). Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. American Journal of Human Genetics, 94(5), 760-769. https://doi.org/10.1016/j.ajhg.2014.04.003

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title = "Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy",

author = "Sergouniotis, {Panagiotis I.} and Christina Chakarova and Cian Murphy and Mirjana Becker and Eva Lenassi and Gavin Arno and Monkol Lek and MacArthur, {Daniel G.} and Bhattacharya, {Shomi S.} and Moore, {Anthony T.} and Holder, {Graham E.} and Robson, {Anthony G.} and Uwe Wolfrum and Webster, {Andrew R.} and Vincent Plagnol",

year = "2014",

month = may,

day = "1",

doi = "10.1016/j.ajhg.2014.04.003",

language = "English",

volume = "94",

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journal = "American Journal of Human Genetics",

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Sergouniotis, PI, Chakarova, C, Murphy, C, Becker, M, Lenassi, E, Arno, G, Lek, M, MacArthur, DG, Bhattacharya, SS, Moore, AT, Holder, GE, Robson, AG, Wolfrum, U, Webster, AR & Plagnol, V 2014, 'Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy', American Journal of Human Genetics, vol. 94, no. 5, pp. 760-769. https://doi.org/10.1016/j.ajhg.2014.04.003

TY - JOUR

T1 - Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy

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

PY - 2014/5/1

Y1 - 2014/5/1

U2 - 10.1016/j.ajhg.2014.04.003

DO - 10.1016/j.ajhg.2014.04.003

M3 - Article

SN - 0002-9297

VL - 94

SP - 760

EP - 769

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 5

ER -