PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy (2019)
- Authors:
- Autor USP: KOK, FERNANDO - FM
- Unidade: FM
- DOI: 10.1212/NXG.0000000000000306
- Subjects: NEFROPATIAS; PESSOAS COM DEFICIÊNCIA INTELECTUAL; ATAXIA; NUCLEOSÍDEOS; MUTAÇÃO GENÉTICA
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Publisher place: Philadelphia
- Date published: 2019
- Source:
- Título: Neurology-genetics
- ISSN: 2376-7839
- Volume/Número/Paginação/Ano: v. 5, n. 1, article ID UNSP e306, 4p, 2019
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
PAIVA, Anderson Rodrigues Brandao de et al. PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy. Neurology-genetics, v. 5, n. 1, 2019Tradução . . Disponível em: https://doi.org/10.1212/NXG.0000000000000306. Acesso em: 26 jan. 2026. -
APA
Paiva, A. R. B. de, Lynch, D. S., Melo, U. S., Lucato, L. T., Freua, F., Assis, B. D. R. de, et al. (2019). PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy. Neurology-genetics, 5( 1). doi:10.1212/NXG.0000000000000306 -
NLM
Paiva ARB de, Lynch DS, Melo US, Lucato LT, Freua F, Assis BDR de, Barcelos I, Listik C, Santos D de C dos, Kok F. PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy [Internet]. Neurology-genetics. 2019 ; 5( 1):[citado 2026 jan. 26 ] Available from: https://doi.org/10.1212/NXG.0000000000000306 -
Vancouver
Paiva ARB de, Lynch DS, Melo US, Lucato LT, Freua F, Assis BDR de, Barcelos I, Listik C, Santos D de C dos, Kok F. PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy [Internet]. Neurology-genetics. 2019 ; 5( 1):[citado 2026 jan. 26 ] Available from: https://doi.org/10.1212/NXG.0000000000000306 - Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment
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Informações sobre o DOI: 10.1212/NXG.0000000000000306 (Fonte: oaDOI API)
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