Identification of pathogenic variants in the Brazilian cohort with familial hypercholesterolemia using exon-targeted gene sequencing (2023)
- Authors:
- Borges, Jéssica Bassani
- Oliveira, Victor Fernandes de
- Dagli-Hernandez, Carolina
- Ferreira, Glaucio Monteiro
- Barbosa, Thais Kristini Almendros Afonso
- Marçal, Elisangela da Silva Rodrigues
- Los, Bruna
- Malaquias, Vanessa Barbosa
- Bortolin, Raul Hernandes
- Freitas, Renata Caroline Costa de
- Mori, Augusto Akira
- Hirata, Thiago Dominguez Crespo
- Nakaya, Helder Takashi Imoto
- Jannes, Cinthia Elim
- Pereira, Alexandre da Costa
- Wang, Jaqueline Yu Ting
- Naslavsky, Michel
- Fajardo, Cristina Moreno
- Hirata, Rosario Dominguez Crespo
- USP affiliated authors: NAKAYA, HELDER TAKASHI IMOTO - FCF ; PEREIRA, ALEXANDRE DA COSTA - FM ; NASLAVSKY, MICHEL SATYA - IB ; FAJARDO, CRISTINA MORENO - FCF ; HIRATA, ROSARIO DOMINGUEZ CRESPO - FCF ; BORGES, JÉSSICA BASSANI - FCF ; HERNANDEZ, CAROLINA DAGLI - FCF ; FERREIRA, GLAUCIO MONTEIRO - FCF ; MARÇAL, ELISANGELA DA SILVA RODRIGUES - FCF ; LOS, BRUNA - FCF ; MALAQUIAS, VANESSA BARBOSA - FCF ; BORTOLIN, RAUL HERNANDES - FCF ; FREITAS, RENATA CAROLINE COSTA DE - FCF ; MORI, AUGUSTO AKIRA - FCF ; HIRATA, THIAGO DOMINGUEZ CRESPO - FCF ; JANNETTI, MILENE GOMES - IB ; WANG, JAQUELINE YU TING - BIOINFORMÁTICA
- Unidades: FCF; FM; IB; BIOINFORMÁTICA
- DOI: 10.1016/j.gene.2023.147501
- Subjects: HIPERCOLESTEROLEMIA; GENOMAS; SEQUENCIAMENTO GENÉTICO
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
BORGES, Jéssica Bassani et al. Identification of pathogenic variants in the Brazilian cohort with familial hypercholesterolemia using exon-targeted gene sequencing. Gene, v. 875, 2023Tradução . . Disponível em: https://doi.org/10.1016/j.gene.2023.147501. Acesso em: 29 maio 2024. -
APA
Borges, J. B., Oliveira, V. F. de, Dagli-Hernandez, C., Ferreira, G. M., Barbosa, T. K. A. A., Marçal, E. da S. R., et al. (2023). Identification of pathogenic variants in the Brazilian cohort with familial hypercholesterolemia using exon-targeted gene sequencing. Gene, 875. doi:10.1016/j.gene.2023.147501 -
NLM
Borges JB, Oliveira VF de, Dagli-Hernandez C, Ferreira GM, Barbosa TKAA, Marçal E da SR, Los B, Malaquias VB, Bortolin RH, Freitas RCC de, Mori AA, Hirata TDC, Nakaya HTI, Jannes CE, Pereira A da C, Wang JYT, Naslavsky M, Fajardo CM, Hirata RDC. Identification of pathogenic variants in the Brazilian cohort with familial hypercholesterolemia using exon-targeted gene sequencing [Internet]. Gene. 2023 ; 875[citado 2024 maio 29 ] Available from: https://doi.org/10.1016/j.gene.2023.147501 -
Vancouver
Borges JB, Oliveira VF de, Dagli-Hernandez C, Ferreira GM, Barbosa TKAA, Marçal E da SR, Los B, Malaquias VB, Bortolin RH, Freitas RCC de, Mori AA, Hirata TDC, Nakaya HTI, Jannes CE, Pereira A da C, Wang JYT, Naslavsky M, Fajardo CM, Hirata RDC. Identification of pathogenic variants in the Brazilian cohort with familial hypercholesterolemia using exon-targeted gene sequencing [Internet]. Gene. 2023 ; 875[citado 2024 maio 29 ] Available from: https://doi.org/10.1016/j.gene.2023.147501 - Effects of PCSK9 missense variants on molecular conformation and biological activity in transfected HEK293FT cells
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Informações sobre o DOI: 10.1016/j.gene.2023.147501 (Fonte: oaDOI API)
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