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Case Reports
. 2019 Jul;86(7):664-665.
doi: 10.1007/s12098-019-02970-z. Epub 2019 May 14.

A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951*) in Primary Ciliary Dyskinesia

Antony Terance Benjamin  1 , Ram Ganesh  1 , Balan Louis Gaspar  2 , Jane Lucas  3 , Claire Jackson  3 , Marie Legendre  4 , Rahma Mani  4 , Estelle Escudier  4
Affiliations
Case Reports

A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951*) in Primary Ciliary Dyskinesia

Antony Terance Benjamin et al. Indian J Pediatr. 2019 Jul.
No abstract available

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References

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    1. Am J Respir Crit Care Med. 2013 Oct 15;188(8):913-22 - PubMed
    1. Hum Mutat. 2018 May;39(5):653-665 - PubMed

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