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Functional and structural impact of the most prevalent missense mutations in classic galactosemia
Galactose-1-phosphate uridylyltransferase (GALT) is a key enzyme in galactose metabolism, particularly important in the neonatal period due to ingestion of galactose-containing milk. GALT deficiency results in the genetic disorder classic galactosemia, whose pathophysiology is still not fully elucid...
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Publicado no: | Mol Genet Genomic Med |
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Main Authors: | , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
BlackWell Publishing Ltd
2014
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4303218/ https://ncbi.nlm.nih.gov/pubmed/25614870 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.94 |
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