Filtros de búsqueda

Lista de obras de Maria João Silva

A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal

artículo científico publicado en 2013

Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model.

artículo científico publicado en 2015

Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells

artículo científico publicado en 2016

Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family

artículo científico publicado en 2016

Demethylation of the coding region triggers the activation of the human testis-specific PDHA2 gene in somatic tissues

artículo científico publicado en 2012

Functional and structural impact of the most prevalent missense mutations in classic galactosemia

artículo científico publicado en 2014

Functional correction by antisense therapy of a splicing mutation in the GALT gene

artículo científico publicado en 2014

Human testis-specific PDHA2 gene: methylation status of a CpG island in the open reading frame correlates with transcriptional activity

artículo científico publicado en 2009

Pyruvate dehydrogenase complex: mRNA and protein expression patterns of E1α subunit genes in human spermatogenesis

artículo científico publicado en 2012

Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation

artículo científico publicado en 2008

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda