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Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine Patients
(Sage Publications Ltd, 2019-12)
Phenylketonuria (PKU, OMIM 261600) is predominantly caused by mutations in the PAH gene. One hundred and three Argentine PKU patients were studied by Sanger sequencing; 101 were completely characterized (90.3% were compound ...
“Atypical” phenotypes of neuronal ceroid lipofuscinosis: the Argentine experience in the genomic era
(2021)
Neuronal Ceroid Lipofuscinosis (NCL) refers to a group of inherited lysosomal storage disorders characterized by the intracellular accumulation of ceroid-lipofuscin compounds and neurodegeneration. Fourteen genes are ...
Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene
(Public Library of Science, 2020)
Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene
(Public Library of Science, 2020)