Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect (Q43695516)

25 November 2017

title

Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect (English)

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25 November 2017

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25 November 2017

G Loudianos

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25 November 2017

V Dessi

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25 November 2017

M Lovicu

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25 November 2017

A Angius

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25 November 2017

A Figus

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25 November 2017

F Lilliu

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25 November 2017

S De Virgiliis

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25 November 2017

A M Nurchi

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25 November 2017

A Deplano

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25 November 2017

M Pirastu

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25 November 2017

A Cao

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25 November 2017

publication date

1 January 1999

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25 November 2017

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25 November 2017

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25 November 2017

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25 November 2017

page(s)

294-303

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CpG-rich islands and the function of DNA methylation

25 November 2017

cites work

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https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C294%3A%3AAID-HUMU4%3E3.0.CO%3B2-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C294%3A%3AAID-HUMU4%3E3.0.CO%3B2-9

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C294%3A%3AAID-HUMU4%3E3.0.CO%3B2-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C294%3A%3AAID-HUMU4%3E3.0.CO%3B2-9

Competition between transcription factors HNF1 and HNF3, and alternative cell-specific activation by DBP and C/EBP contribute to the regulation of the liver-specific aldolase B promoter

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C294%3A%3AAID-HUMU4%3E3.0.CO%3B2-9

A new bacteriophage P1-derived vector for the propagation of large human DNA fragments

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C294%3A%3AAID-HUMU4%3E3.0.CO%3B2-9

CpG islands as gene markers in the human genome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C294%3A%3AAID-HUMU4%3E3.0.CO%3B2-9

Haplotype and mutation analysis in Greek patients with Wilson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C294%3A%3AAID-HUMU4%3E3.0.CO%3B2-9

Isolation of a partial candidate gene for Menkes disease by positional cloning

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C294%3A%3AAID-HUMU4%3E3.0.CO%3B2-9

Haplotype and mutation analysis in Japanese patients with Wilson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C294%3A%3AAID-HUMU4%3E3.0.CO%3B2-9

Initiation of protein synthesis in eukaryotic cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C294%3A%3AAID-HUMU4%3E3.0.CO%3B2-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C294%3A%3AAID-HUMU4%3E3.0.CO%3B2-9

Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C294%3A%3AAID-HUMU4%3E3.0.CO%3B2-9

Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C294%3A%3AAID-HUMU4%3E3.0.CO%3B2-9

Two Mutations in the Promoter Region of the Human Protein C Gene Both Cause Type I Protein C Deficiency by Disruption of Two HNF-3 Binding Sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C294%3A%3AAID-HUMU4%3E3.0.CO%3B2-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C294%3A%3AAID-HUMU4%3E3.0.CO%3B2-9

The Wilson disease gene: spectrum of mutations and their consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C294%3A%3AAID-HUMU4%3E3.0.CO%3B2-9

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C294%3A%3AAID-HUMU4%3E3.0.CO%3B2-9

Efficient detection of mutations in Wilson disease by manifold sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C294%3A%3AAID-HUMU4%3E3.0.CO%3B2-9

Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C294%3A%3AAID-HUMU4%3E3.0.CO%3B2-9

10.1002/(SICI)1098-1004(199910)14:4<294::AID-HUMU4>3.0.CO;2-9

21 January 2018

Identifiers

DOI

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25 November 2017

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