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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| Autori principali: | , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
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Sociedade Brasileira de Genética
2013-01-01
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| Serie: | Genetics and Molecular Biology |
| Soggetti: | |
| Accesso online: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000400007&lng=en&tlng=en |
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