Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease.

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Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease.

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http://www.wikidata.org/entity/Q55333205

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

@zh-cn

2018年学术文章

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2018年学术文章

@zh-my

2018年学术文章

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2018年學術文章

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2018年學術文章

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2018年學術文章

@zh-hant

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Three novel mutations in the A ...... patients with Wilson disease.

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Three novel mutations in the A ...... patients with Wilson disease.

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type

Item

label

Three novel mutations in the A ...... patients with Wilson disease.

@en

Three novel mutations in the A ...... patients with Wilson disease.

@nl

prefLabel

Three novel mutations in the A ...... patients with Wilson disease.

@en

Three novel mutations in the A ...... patients with Wilson disease.

@nl

P1476

Three novel mutations in the A ...... patients with Wilson disease.

@en

P2093

Le Thanh Hai

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Ngo Diem Ngoc

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Nguyen Pham Anh Hoa

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Nguyen Thi Kim Lien

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Nguyen Thi Mai Huong

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Nguyen Thi Phuong Mai

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Phan Van Chi

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Ta Thanh Van

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Tran Van Khanh

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P2860

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

Biochemical basis of regulation of human copper-transporting ATPases

A method and server for predicting damaging missense mutations

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

MutationTaster evaluates disease-causing potential of sequence alterations

Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease.

Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation.

High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.

The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.

Mapping, cloning and genetic characterization of the region containing the Wilson disease gene.

P2888

s12881-018-0619-4

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104

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scholarly article

case report

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10.1186/S12881-018-0619-4

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P433

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P478

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Nguyen Huy Hoang

P577

2018-06-18T00:00:00Z

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P6179

1104890970

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29914392

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6006946

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