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A novel homozygous nonsense HYDIN gene mutation p.(Arg951*) in primary ciliary dyskinesia

A novel homozygous nonsense HYDIN gene mutation p.(Arg951*) in primary ciliary dyskinesia
A novel homozygous nonsense HYDIN gene mutation p.(Arg951*) in primary ciliary dyskinesia
0019-5456
Benjamin, Antony T.
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Ganesh, Ram
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Gasper, Balan Louis
ef79000b-b232-4b86-9724-20ccfff450ee
Lucas, Jane
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Jackson, Claire
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Legendre, Marie
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Rahma, Mani
f7e3bfa7-2e69-4557-9536-ace8ef62a51f
Escudier, Estelle
27fcab41-7991-4f6d-bcec-94a24bd27c52
Benjamin, Antony T.
8b7ca489-d184-48cf-9395-7a5a84857673
Ganesh, Ram
3f3cddc1-0fa2-4bb8-84a1-84f3d7901f19
Gasper, Balan Louis
ef79000b-b232-4b86-9724-20ccfff450ee
Lucas, Jane
5cb3546c-87b2-4e59-af48-402076e25313
Jackson, Claire
64cdd6fa-74c3-4ac6-94ef-070620a6efd9
Legendre, Marie
5e9a2e46-5762-4d5b-8928-d541c3e86847
Rahma, Mani
f7e3bfa7-2e69-4557-9536-ace8ef62a51f
Escudier, Estelle
27fcab41-7991-4f6d-bcec-94a24bd27c52

Benjamin, Antony T., Ganesh, Ram, Gasper, Balan Louis, Lucas, Jane, Jackson, Claire, Legendre, Marie, Rahma, Mani and Escudier, Estelle (2019) A novel homozygous nonsense HYDIN gene mutation p.(Arg951*) in primary ciliary dyskinesia. The Indian Journal of Pediatrics. (doi:10.1007/s12098-019-02970-z).

Record type: Letter
Text
HYDIN_accepted - Accepted Manuscript
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More information

Accepted/In Press date: 22 April 2019
e-pub ahead of print date: 14 May 2019

Identifiers

Local EPrints ID: 430984
URI: http://eprints.soton.ac.uk/id/eprint/430984
ISSN: 0019-5456
PURE UUID: c75c97a1-7442-4e7c-b45f-619d181f1b69

Catalogue record

Date deposited: 21 May 2019 16:30
Last modified: 26 Nov 2021 06:29

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Contributors

Author: Antony T. Benjamin
Author: Ram Ganesh
Author: Balan Louis Gasper
Author: Jane Lucas
Author: Claire Jackson
Author: Marie Legendre
Author: Mani Rahma
Author: Estelle Escudier

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