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...

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Detaylı Bibliyografya
Yayımlandı:Orphanet J Rare Dis
Asıl Yazarlar: Jezela-Stanek, Aleksandra, Bauer, Anna, Wertheim-Tysarowska, Katarzyna, Bal, Jerzy, Rygiel, Agnieszka Magdalena, Sykut-Cegielska, Jolanta
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2021
Konular:
Letter to the Editor
Online Erişim: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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