A novel homozygous JAK3 mutation leading to T-B+NK– SCID in two brazilian patients (2018)
- Authors:
- USP affiliated authors: ROXO JÚNIOR, PÉRSIO - FMRP ; CONDINO NETO, ANTONIO - ICB ; BARREIROS, LUCILA AKUNE - ICB
- Unidades: FMRP; ICB
- DOI: 10.3389/fped.2018.00230
- Subjects: TRIAGEM; NEONATOLOGIA; SEQUENCIAMENTO GENÉTICO; SISTEMA IMUNE
- Keywords: Primary immunodeficiency; Severe combined immunodeficiency; SCID; JAK3; Newborn screening
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Frontiers in Pediatrics
- ISSN: 2296-2360
- Volume/Número/Paginação/Ano: v. 6, art. 230, 2018
- Este periódico é de acesso aberto
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: gold
- Licença: cc-by
-
ABNT
BARREIROS, Lucila Akune et al. A novel homozygous JAK3 mutation leading to T-B+NK– SCID in two brazilian patients. Frontiers in Pediatrics, v. 6, 2018Tradução . . Disponível em: https://doi.org/10.3389/fped.2018.00230. Acesso em: 24 abr. 2024. -
APA
Barreiros, L. A., Segundo, G. R. S., Grumach, A. S., Roxo-Junior, P., Torgerson, T. R., Ochs, H. D., & Condino Neto, A. (2018). A novel homozygous JAK3 mutation leading to T-B+NK– SCID in two brazilian patients. Frontiers in Pediatrics, 6. doi:10.3389/fped.2018.00230 -
NLM
Barreiros LA, Segundo GRS, Grumach AS, Roxo-Junior P, Torgerson TR, Ochs HD, Condino Neto A. A novel homozygous JAK3 mutation leading to T-B+NK– SCID in two brazilian patients [Internet]. Frontiers in Pediatrics. 2018 ; 6[citado 2024 abr. 24 ] Available from: https://doi.org/10.3389/fped.2018.00230 -
Vancouver
Barreiros LA, Segundo GRS, Grumach AS, Roxo-Junior P, Torgerson TR, Ochs HD, Condino Neto A. A novel homozygous JAK3 mutation leading to T-B+NK– SCID in two brazilian patients [Internet]. Frontiers in Pediatrics. 2018 ; 6[citado 2024 abr. 24 ] Available from: https://doi.org/10.3389/fped.2018.00230 - The panorama in diagnoses of severe combined immunodeficiency begins to change in Brazil
- Clinical and genotypic spectrum of chronic granulomatous disease in 71 Latin American patients: first report from the LASID registry
- The awareness of pediatricians concerning primary immunodeficiency diseases in Brazil before and after an education program
- High-performance liquid chromatography under partially denaturing conditions (dHPLC) is a fast and cost effective method for screening molecular defects: four novel mutations found in x-linked chronic granulomatous disease
- First report of the hyper-IgM syndrome registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes
- Severe combined immunodeficiency in Brazil: management, prognosis, and BCG-associated complications
- Doctors’ awareness concerning primary immunodeficiencies in Brazil
- Doctors' awareness concerning primary immunodeficiencies in Brazil
- SCID and other inborn errors of immunity with Low TRECs — the Brazilian experience
- Investigação genético-molecular de pacientes com imunodeficiência combinada grave
Informações sobre o DOI: 10.3389/fped.2018.00230 (Fonte: oaDOI API)
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