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...

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Principais autores:	Marcelo Paschoalete Carlin, Daniel Zanetti Scherrer, Adriana Maria Alves De Tommaso, Carmen Silvia Bertuzzo, Carlos Eduardo Steiner
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Sociedade Brasileira de Genética 2013-01-01
Colecção:	Genetics and Molecular Biology
Assuntos:	DNA-based diagnosis glycogen storage disease G6PC SLC37A4 mutation
Acesso em linha:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000400007&lng=en&tlng=en
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