Novel ABCA3 mutations as a cause of respiratory distress in a term newborn.

Gonçalves, Jean-Pierre; Pinheiro, Liliana; Costa, Miguel; Silva, Albina; Gonçalves, Augusta; Pereira, Almerinda

Gonçalves, Jean-Pierre; Pinheiro, Liliana; Costa, Miguel; Silva, Albina; Gonçalves, Augusta; Pereira, Almerinda.

Gonçalves JP; Pediatric Department, Braga Hospital, Braga, Portugal; Community Health, School of Health Sciences, University of Minho, Portugal. Electronic address: pierre_3.14r@hotmail.com.
Pinheiro L; Neonatology, Braga Hospital, Braga, Portugal.
Costa M; Neonatology, Braga Hospital, Braga, Portugal.
Silva A; Neonatology, Braga Hospital, Braga, Portugal.
Gonçalves A; Pediatric Department, Braga Hospital, Braga, Portugal.
Pereira A; Neonatology, Braga Hospital, Braga, Portugal.

Gene ; 534(2): 417-20, 2014 Jan 25.

Article en En | MEDLINE | ID: mdl-24269975

Asunto(s)

Transportadoras de Casetes de Unión a ATP/genética; Mutación; Síndrome de Dificultad Respiratoria del Recién Nacido/genética; Transportadoras de Casetes de Unión a ATP/deficiencia; Femenino; Heterocigoto; Humanos; Recién Nacido

Palabras clave

ABCA3; ATP-binding cassette A3 transporter; BAL; CT; DIP; LB; NBD; NKX2-1; RDS; Respiratory distress; SFTPB; SFTPC; Surfactant; broncho-alveolar lavage; computed tomography; desquamative interstitial pneumonitis; lamellar bodies; nucleotide binding domain; respiratory distress syndrome; surfactant protein-B; surfactant protein-C; thyroid transcription factor-1

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Dificultad Respiratoria del Recién Nacido / Transportadoras de Casetes de Unión a ATP / Mutación Límite: Female / Humans / Newborn Idioma: En Año: 2014 Tipo del documento: Article

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