Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations (2018)
- Authors:
- Autor USP: KOK, FERNANDO - FM
- Unidade: FM
- DOI: 10.1038/s41598-018-35022-1
- Subjects: DOENÇAS GENÉTICAS; MUTAÇÃO GENÉTICA; GENEALOGIA
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título: Scientific reports
- ISSN: 2045-2322
- Volume/Número/Paginação/Ano: v. 8, article ID 16552, 8p, 2018
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
FARIAS, Allysson Allan de et al. Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations. Scientific reports, v. 8, 2018Tradução . . Disponível em: https://doi.org/10.1038/s41598-018-35022-1. Acesso em: 22 jan. 2026. -
APA
Farias, A. A. de, Nunes, K., Lemes, R. B., Moura, R., Fernandes, G. R., Melo, U. S., et al. (2018). Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations. Scientific reports, 8. doi:10.1038/s41598-018-35022-1 -
NLM
Farias AA de, Nunes K, Lemes RB, Moura R, Fernandes GR, Melo US, Zatz M, Kok F, Santos S. Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations [Internet]. Scientific reports. 2018 ; 8[citado 2026 jan. 22 ] Available from: https://doi.org/10.1038/s41598-018-35022-1 -
Vancouver
Farias AA de, Nunes K, Lemes RB, Moura R, Fernandes GR, Melo US, Zatz M, Kok F, Santos S. Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations [Internet]. Scientific reports. 2018 ; 8[citado 2026 jan. 22 ] Available from: https://doi.org/10.1038/s41598-018-35022-1 - Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment
- CHARCOT-MARIE-TOOTH 2W. A NEW MUTATION?
- AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
- Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS
- Oxidative damage in glutaric aciduria type I patients and the protective effects of L-carnitine treatment
- Paraplegias espásticas hereditárias
- Clinical and genetic characterization of leukoencephalopathies in adults
- Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
- Encefalopatias progressivas em crianças
- A novel GFAP mutation in a type II (late-onset) Alexander disease patient [Carta]
Informações sobre o DOI: 10.1038/s41598-018-35022-1 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
