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Page 1
Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing.
Borges JB, Oliveira VF, Dagli-Hernandez C, Ferreira GM, Barbosa TKAA, da Silva Rodrigues Marçal E, Los B, Malaquias VB, Bortolin RH, Freitas RCC, Mori AA, Bastos GM, Gonçalves RM, Araújo DB, Zatz H, Bertolami A, Faludi AA, Bertolami MC, de Moraes Rego Souza AG, França JÍD, Thurow HS, Hirata TDC, Nakaya HTI, Jannes CE, da Costa Pereira A, Silbiger VN, Luchessi AD, Araújo JNG, Nakazone MA, Carmo TS, Souza DRS, Moriel P, Wang JYT, Naslavsky MS, Gorjão R, Pithon-Curi TC, Curi R, Fajardo CM, Wang HL, Garófalo AR, Cerda A, Sampaio MF, Hirata RDC, Hirata MH. Borges JB, et al. Among authors: ferreira gm. Gene. 2023 Jul 30;875:147501. doi: 10.1016/j.gene.2023.147501. Epub 2023 May 20. Gene. 2023. PMID: 37217153
Effects of LDLR variants rs5928, rs750518671 and rs879254797 on protein structure and functional activity in HepG2 cells transfected with CRISPR/Cas9 constructs.
Mori AA, Malaquias VB, Bonjour K, Ferreira GM, Bortolin RH, Borges JB, Oliveira VF, Gonçalves RM, Faludi AA, Bastos GM, Thurow H, Sampaio MF, Ciconelli RM, Cury AN, Fajardo CM, Hirata RDC, Hirata MH. Mori AA, et al. Among authors: ferreira gm. Gene. 2024 Jan 10;890:147821. doi: 10.1016/j.gene.2023.147821. Epub 2023 Sep 20. Gene. 2024. PMID: 37739193
39 results