Genetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson disease

BACKGROUND: Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by allelic variants in ATP7B gene. More than 500 distinct variants have been reported, the most common WD causing allelic variant in the patients from Central, Eastern, and Northern Europe is H1069Q. METHO...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Zarina, Agnese, Tolmane, Ieva, Kreile, Madara, Chernushenko, Aleksandrs, Cernevska, Gunta, Pukite, Ieva, Micule, Ieva, Krumina, Zita, Krumina, Astrida, Rozentale, Baiba, Piekuse, Linda
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5511797/
https://ncbi.nlm.nih.gov/pubmed/28717664
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.297
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