Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome (2015)
- Authors:
- Melo, Uira S
- Macedo-Souza, Lucia I
- Figueiredo, Thalita - Universidade Federal da Paraíba (UFPB)
- Muotri, Alysson R
- Gleeson, , Joseph G
- Coux, Gabriela
- Armas, Pablo
- Calcaterra, Nora B
- Kitajima, João P
- Amorim, Simone
- Olávio, Thiago R
- Griesi-Oliveira, Karina
- Coatti, Giuliana C
- Rocha, Clarissa R. R
- Martins-Pinheiro, Marinalva
- Menck, Carlos Frederico Martins
- Zaki, Maha S
- Kok, Fernando
- Zatz, Mayana
- Santos, Silvana - Universidade Federal da Paraíba (UFPB)
- USP affiliated authors: MENCK, CARLOS FREDERICO MARTINS - ICB ; KOK, FERNANDO - FM ; ZATZ, MAYANA - IB
- Unidades: ICB; FM; IB
- DOI: 10.1093/hmg/ddv388
- Subjects: DOENÇAS NEURODEGENERATIVAS; SEQUENCIAMENTO GENÉTICO; DOENÇAS GENÉTICAS; MAPEAMENTO GENÉTICO; NEUROGENÉTICA; HEREDITARIEDADE; REPARAÇÃO DE DNA
- Language: Inglês
- Imprenta:
- Source:
- Título: Human Molecular Genetics
- ISSN: 1460-2083
- Volume/Número/Paginação/Ano: online, p. 1-9, Sept. 2015
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
MELO, Uira S et al. Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome. Human Molecular Genetics, p. 1-9, 2015Tradução . . Disponível em: https://doi.org/10.1093/hmg/ddv388. Acesso em: 11 fev. 2026. -
APA
Melo, U. S., Macedo-Souza, L. I., Figueiredo, T., Muotri, A. R., Gleeson,, Coux, G., et al. (2015). Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome. Human Molecular Genetics, 1-9. doi:10.1093/hmg/ddv388 -
NLM
Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olávio TR, Griesi-Oliveira K, Coatti GC, Rocha CRR, Martins-Pinheiro M, Menck CFM, Zaki MS, Kok F, Zatz M, Santos S. Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome [Internet]. Human Molecular Genetics. 2015 ; 1-9.[citado 2026 fev. 11 ] Available from: https://doi.org/10.1093/hmg/ddv388 -
Vancouver
Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olávio TR, Griesi-Oliveira K, Coatti GC, Rocha CRR, Martins-Pinheiro M, Menck CFM, Zaki MS, Kok F, Zatz M, Santos S. Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome [Internet]. Human Molecular Genetics. 2015 ; 1-9.[citado 2026 fev. 11 ] Available from: https://doi.org/10.1093/hmg/ddv388 - Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease
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Informações sobre o DOI: 10.1093/hmg/ddv388 (Fonte: oaDOI API)
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