Your browser doesn't support javascript.
loading
Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood.
Manali, Effrosyni D; Legendre, Marie; Nathan, Nadia; Kannengiesser, Caroline; Coulomb-L'Hermine, Aurore; Tsiligiannis, Theofanis; Tomos, Pericles; Griese, Matthias; Borie, Raphael; Clement, Annick; Amselem, Serge; Crestani, Bruno; Papiris, Spyros A.
Afiliación
  • Manali ED; 2nd Pulmonary Medicine Dept, General University Hospital "Attikon", Medical School, National and Kapodistrian University of Athens, Athens, Greece.
  • Legendre M; These authors contributed equally.
  • Nathan N; Sorbonne Université, INSERM UMR_S933, and Assistance Publique Hôpitaux de Paris, Service de Génétique et d'Embryologie Médicales, Hôpital Armand Trousseau, Paris, France.
  • Kannengiesser C; These authors contributed equally.
  • Coulomb-L'Hermine A; Sorbonne Université, INSERM UMR_S933, France, Assistance Publique Hôpitaux de Paris, Service de Pneumologie Pédiatrique, Hôpital Armand Trousseau, Centre National de Référence des Maladies Respiratoires Rares RespiRare, Paris, France.
  • Tsiligiannis T; Service de Génétique, Hôpital Bichat, Assistance Publique Hôpitaux de Paris, Université Paris Diderot, Sorbonne Paris Cité, Paris, France.
  • Tomos P; Service d'Anatomie et de Cytologie Pathologiques, Sorbonne Université, Hôpital d'Enfants Armand Trousseau, Paris, France.
  • Griese M; Pediatric Pulmonology, Mitera Pediatric Hospital, Athens Greece.
  • Borie R; Dept of Thoracic Surgery, General University Hospital "Attikon", Medical School, National and Kapodistrian University of Athens, Athens, Greece.
  • Clement A; Dept of Pediatric Pneumology, Dr von Hauner Children's Hospital, Ludwig-Maximilians-University, German Center for Lung Research, Munich, Germany.
  • Amselem S; Service de Pneumologie A, Hôpital Bichat, Assistance Publique Hôpitaux de Paris, Centre de Référence des Maladies Pulmonaires Rares, Université Paris Diderot, Sorbonne Paris Cité, DHU FIRE, Paris, France.
  • Crestani B; Sorbonne Université, INSERM UMR_S933, France, Assistance Publique Hôpitaux de Paris, Service de Pneumologie Pédiatrique, Hôpital Armand Trousseau, Centre National de Référence des Maladies Respiratoires Rares RespiRare, Paris, France.
  • Papiris SA; Sorbonne Université, INSERM UMR_S933, and Assistance Publique Hôpitaux de Paris, Service de Génétique et d'Embryologie Médicales, Hôpital Armand Trousseau, Paris, France.
ERJ Open Res ; 5(3)2019 Jul.
Article en En | MEDLINE | ID: mdl-31360696
ABSTRACT
Children with ABCA3 mutations may survive beyond infancy and reach adulthood. Genetic mechanisms should always be examined in adult patients with childhood onset ILD and molecular analysis should be performed accordingly in specialised referral centres. http//bit.ly/2LzMNOE.
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: ERJ Open Res Año: 2019 Tipo del documento: Article País de afiliación: Grecia
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: ERJ Open Res Año: 2019 Tipo del documento: Article País de afiliación: Grecia