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2 articles related to "Compound Heterozygosis"

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Articles

Original Research

Published on 16 Sep 2020

Familial Focal Segmental Glomerulosclerosis With Late-Onset Presentation and R229Q/R291W Podocin Mutations

in Genomic Medicine

Michelle T. P. Riguetti
Patrícia Varela
Danilo E. Fernandes
M. Goretti Polito
Fernanda M. Casimiro
João B. Pesquero
Gianna Mastroianni-Kirsztajn

Frontiers in Genetics

doi 10.3389/fgene.2020.533373

3,789 views
2 citations

Original Research

Published on 08 Jan 2020

Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome

in Epigenomics and Epigenetics

Sonia Emperador
Nuria Garrido-Pérez
Javier Amezcua-Gil
Paula Gaudó
Julio Alberto Andrés-Sanz
Delia Yubero
Ana Fernández-Marmiesse
Maria M. O’Callaghan
Juan D. Ortigoza-Escobar
Marti Iriondo

Frontiers in Genetics

doi 10.3389/fgene.2019.01300

6,507 views
11 citations