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A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951*) in Primary Ciliary Dyskinesia.
Benjamin, Antony Terance; Ganesh, Ram; Gaspar, Balan Louis; Lucas, Jane; Jackson, Claire; Legendre, Marie; Mani, Rahma; Escudier, Estelle.
Affiliation
  • Benjamin AT; Department of Molecular Pathology, Primary Ciliary Dyskinesia Unit, G Kuppusamy Naidu Memorial Hospital, Coimbatore, 641037, India.
  • Ganesh R; Department of Molecular Pathology, Primary Ciliary Dyskinesia Unit, G Kuppusamy Naidu Memorial Hospital, Coimbatore, 641037, India.
  • Gaspar BL; Department of Molecular Pathology, Primary Ciliary Dyskinesia Unit, G Kuppusamy Naidu Memorial Hospital, Coimbatore, 641037, India. louisbalan@gmail.com.
  • Lucas J; Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Jackson C; Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Legendre M; U.F. de Génétique moléculaire, Hôpital Armand Trousseau, Paris, France.
  • Mani R; U.F. de Génétique moléculaire, Hôpital Armand Trousseau, Paris, France.
  • Escudier E; U.F. de Génétique moléculaire, Hôpital Armand Trousseau, Paris, France.
Indian J Pediatr ; 86(7): 664-665, 2019 07.
Article in En | MEDLINE | ID: mdl-31089940
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ciliary Motility Disorders / Codon, Nonsense / Homozygote / Microfilament Proteins / Mutation Type of study: Diagnostic_studies Limits: Child, preschool / Female / Humans / Infant / Male Language: En Journal: Indian J Pediatr Year: 2019 Document type: Article Affiliation country: India
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ciliary Motility Disorders / Codon, Nonsense / Homozygote / Microfilament Proteins / Mutation Type of study: Diagnostic_studies Limits: Child, preschool / Female / Humans / Infant / Male Language: En Journal: Indian J Pediatr Year: 2019 Document type: Article Affiliation country: India