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

Springer Science and Business Media LLC - Tập 86 - Trang 664-665 - 2019
Antony Terance Benjamin1, Ram Ganesh1, Balan Louis Gaspar1, Jane Lucas2, Claire Jackson2, Marie Legendre3, Rahma Mani3, Estelle Escudier3
1Department of Molecular Pathology, Primary Ciliary Dyskinesia Unit, G Kuppusamy Naidu Memorial Hospital, Coimbatore, India
2Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK
3U.F. de Génétique moléculaire, Hôpital Armand Trousseau, Paris, France

Tài liệu tham khảo

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