Large deletion in PIGL: a common mutational mechanism in CHIME syndrome? (2018)
- Authors:
- USP affiliated authors: KIM, CHONG AE - FM ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB ; BERTOLA, DÉBORA ROMEO - IB
- Unidades: FM; IB
- DOI: 10.1590/1678-4685-gmb-2017-0172
- Subjects: GENÉTICA MÉDICA; MUTAÇÃO GENÉTICA; ENZIMAS; DIAGNÓSTICO CLÍNICO
- Keywords: PIGL; CHIME syndrome; GPI biosynthesis; Large deletion
- Language: Inglês
- Imprenta:
- Publisher place: Ribeirao Preto
- Date published: 2018
- Source:
- Título do periódico: Genetics and Molecular Biology
- ISSN: 1415-4757
- Volume/Número/Paginação/Ano: online, 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
CERONI, José R. M et al. Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?. Genetics and Molecular Biology, 2018Tradução . . Disponível em: https://doi.org/10.1590/1678-4685-gmb-2017-0172. Acesso em: 24 maio 2024. -
APA
Ceroni, J. R. M., Yamamoto, G. L., Honjo, R. S., Kim, C. A., Passos-Bueno, M. R., & Bertola, D. R. (2018). Large deletion in PIGL: a common mutational mechanism in CHIME syndrome? Genetics and Molecular Biology. doi:10.1590/1678-4685-gmb-2017-0172 -
NLM
Ceroni JRM, Yamamoto GL, Honjo RS, Kim CA, Passos-Bueno MR, Bertola DR. Large deletion in PIGL: a common mutational mechanism in CHIME syndrome? [Internet]. Genetics and Molecular Biology. 2018 ;[citado 2024 maio 24 ] Available from: https://doi.org/10.1590/1678-4685-gmb-2017-0172 -
Vancouver
Ceroni JRM, Yamamoto GL, Honjo RS, Kim CA, Passos-Bueno MR, Bertola DR. Large deletion in PIGL: a common mutational mechanism in CHIME syndrome? [Internet]. Genetics and Molecular Biology. 2018 ;[citado 2024 maio 24 ] Available from: https://doi.org/10.1590/1678-4685-gmb-2017-0172 - Richieri-Costa-Pereira syndrome: expanding its phenotypicand genotypic spectrum
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Informações sobre o DOI: 10.1590/1678-4685-gmb-2017-0172 (Fonte: oaDOI API)
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