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Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study

Classic galactosaemia is an inherited metabolic disorder of galactose metabolism caused by deficiency of the enzyme galactose‐1‐phosphate uridyltransferase (GALT) resulting from mutations in the GALT gene. The objectives of the present study were the determination of the carrier frequency of classic...

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Detalhes bibliográficos
Publicado no:Ann Hum Genet
Main Authors: Papachristoforou, Rena, Petrou, Petros P., Sawyer, Hilary, Williams, Maggie, Drousiotou, Anthi
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6766971/
https://ncbi.nlm.nih.gov/pubmed/30994193
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/ahg.12318
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