Analysis of mutations spectrum in the ATP7B gene in patients with Wilson disease using massively parallel sequencing.

Sivtsev, A A; Zhalsanova, I Zh; Postrigan, A E; Fonova, E A; Vasilyeva, O Yu; Zarubin, A A; Minaicheva, L I; Agafonova, A A; Petrova, V V; Ravzhaeva, E G; Salyukova, O A; Skryabin, N A

Sivtsev, A A; Zhalsanova, I Zh; Postrigan, A E; Fonova, E A; Vasilyeva, O Yu; Zarubin, A A; Minaicheva, L I; Agafonova, A A; Petrova, V V; Ravzhaeva, E G; Salyukova, O A; Skryabin, N A.

Afiliação

Sivtsev AA; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science.
Zhalsanova IZ; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science.
Postrigan AE; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science.
Fonova EA; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science.
Vasilyeva OY; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science.
Zarubin AA; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science.
Minaicheva LI; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science.
Agafonova AA; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science.
Petrova VV; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science.
Ravzhaeva EG; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science.
Salyukova OA; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science.
Skryabin NA; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science.

Klin Lab Diagn ; 67(4): 250-256, 2022 Apr 17.

Article em En | MEDLINE | ID: mdl-35575400

Assuntos

ATPases Transportadoras de Cobre/genética; Degeneração Hepatolenticular; Degeneração Hepatolenticular/epidemiologia; Degeneração Hepatolenticular/genética; Sequenciamento de Nucleotídeos em Larga Escala; Humanos; Mutação/genética; Reação em Cadeia da Polimerase

Palavras-chave

ATP7B; Wilson disease; massively parallel sequencing (MPS)

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: ATPases Transportadoras de Cobre / Degeneração Hepatolenticular Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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