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The genetic basis of classical galactosaemia in Polish patients
Classic galactosemia (OMIM #230400) is an autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the galactose-1-phosphate uridylyltransferase gene (GALT; 606999) on chromosome 9p13. Its diagnosis is established by detecting elevated erythrocyte galactose-1...
Enregistré dans:
| Publié dans: | Orphanet J Rare Dis |
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| Auteurs principaux: | , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BioMed Central
2021
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8142503/ https://ncbi.nlm.nih.gov/pubmed/34030713 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01869-3 |
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