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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Detalles Bibliográficos
Autores principales: Zarina, Agnese, Tolmane, Ieva, Kreile, Madara, Chernushenko, Aleksandrs, Cernevska, Gunta, Pukite, Ieva, Micule, Ieva, Krumina, Zita, Krumina, Astrida, Rozentale, Baiba, Piekuse, Linda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511797/
https://www.ncbi.nlm.nih.gov/pubmed/28717664
http://dx.doi.org/10.1002/mgg3.297

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