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Martha Montalván‐Suárez
Martha Montalván‐Suárez
Catholic University of Santiago de Guayaquil
Congenital ichthyosis
Genetics
Frameshift mutation
Exon
Compound heterozygosity
2
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2
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A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations
2019
Molecular Genetics & Genomic Medicine
Martha Montalván‐Suárez
Uxia Saraiva Esperón‐Moldes
L. Rodríguez-Pazos
Andrés Ordóñez‐Ugalde
Fernanda Moscoso
Nora Ugalde‐Noritz
Luis Santomé
Laura Fachal
Daniel Tettamanti‐Miranda
Juan Carlos Ruiz
Manuel Ginarte
Ana Vega
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Mutaciones en el gen TGM1 en pacientes ecuatorianos con ictiosis congénita autosómica recesiva
2012
Héctor Zambrano
Martha Montalván‐Suárez
Anita Fahri
Yin Lu
Catherine S. Yang
Jimmy Cabezas
Richard P. Lifton
Leonard M. Milstone
Keith A. Choate
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