Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib

Glycogen storage disease (GSD) comprises a group of autosomal recessive disorders characterized by deficiency of the enzymes that regulate the synthesis or degradation of glycogen. Types Ia and Ib are the most prevalent; while the former is caused by deficiency of glucose-6-phosphatase (G6Pase), the...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Carlin, Marcelo Paschoalete, Scherrer, Daniel Zanetti, De Tommaso, Adriana Maria Alves, Bertuzzo, Carmen Silvia, Steiner, Carlos Eduardo
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Sociedade Brasileira de Genética 2013
Pynciau:
Evolutionary Genetics
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3873180/
https://ncbi.nlm.nih.gov/pubmed/24385852
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/S1415-47572013000400007
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