We began analyzing https://www.nature.com/articles/jhg200058, but it redirected us to https://www.nature.com/articles/jhg200058. The analysis below is for the second page.

Title[redir]:
Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association | Journal of Human Genetics
Description:
Wilson disease (WND) is caused by a deficiency of the copper-transporting enzyme, P-type ATPase (ATP7B). Twelve different mutations have previously been identified in Taiwan Chinese with Wilson disease. We, herein, report another 4 missense mutations, 1 of which is novel. We did haplotype analysis of Taiwanese WND chromosomes, using three well characterized short tandem repeat markers (haplotype was assigned in the order of D13S314-D13S301-D13S316). Association correlation was found between the mutations and their respective haplotypes. Haplotype-deduced pedigree analysis was shown to be helpful in the mutation analysis of WND chromosomes and in the molecular assessment of both pre-symptomatic WND patients and carriers. Given the complexity and heterogeneity of the mutation spectrum of ATP7B, we suggest that haplotype analysis should be performed before full-scale mutation analysis.

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Keywords {🔍}

nature, article, analysis, disease, taiwan, wilson, content, mutation, tsai, atpb, mutations, cookies, information, journal, privacy, genetics, molecular, wnd, china, medical, data, human, identification, lee, haplotype, open, department, hospital, research, permissions, advertising, september, association, wilsons, access, pdf, author, college, taichung, japan, rights, site, optional, media, personal, parties, policy, advertisement, journals, original,

Topics {✒️}

nature portfolio medical research permissions reprints privacy policy nature advertising social media haplotype-deduced pedigree analysis full-scale mutation analysis personal data pre-symptomatic wnd patients data protection japan privacy teikyo university hospital permissions journals search log atp7b mutants modify atp7b mutation detection china investigating common mutations explore content similar content european economic area copper-transporting enzyme p-type atpase d13s314-d13s301-d13s316 2 yuh–der road fax +886-4-2033295 e-mail haplotype-mutation association accepting optional cookies human genetics hong kong chinese manage preferences advertisement journal 1007/s100380070015 share atp7b gene article cite article lee taiwanese wnd chromosomes content haplotype analysis wilson disease thai population mutation analysis journal publish information tsai journal 2000 rights markers taiwanese

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         headline:Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association
         description: Wilson disease (WND) is caused by a deficiency of the copper-transporting enzyme, P-type ATPase (ATP7B). Twelve different mutations have previously been identified in Taiwan Chinese with Wilson disease. We, herein, report another 4 missense mutations, 1 of which is novel. We did haplotype analysis of Taiwanese WND chromosomes, using three well characterized short tandem repeat markers (haplotype was assigned in the order of D13S314-D13S301-D13S316). Association correlation was found between the mutations and their respective haplotypes. Haplotype-deduced pedigree analysis was shown to be helpful in the mutation analysis of WND chromosomes and in the molecular assessment of both pre-symptomatic WND patients and carriers. Given the complexity and heterogeneity of the mutation spectrum of ATP7B, we suggest that haplotype analysis should be performed before full-scale mutation analysis.
         datePublished:2000-09-01T00:00:00Z
         dateModified:2000-09-01T00:00:00Z
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            Molecular Medicine
            Gene Function
            Gene Expression
            Gene Therapy
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      headline:Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association
      description: Wilson disease (WND) is caused by a deficiency of the copper-transporting enzyme, P-type ATPase (ATP7B). Twelve different mutations have previously been identified in Taiwan Chinese with Wilson disease. We, herein, report another 4 missense mutations, 1 of which is novel. We did haplotype analysis of Taiwanese WND chromosomes, using three well characterized short tandem repeat markers (haplotype was assigned in the order of D13S314-D13S301-D13S316). Association correlation was found between the mutations and their respective haplotypes. Haplotype-deduced pedigree analysis was shown to be helpful in the mutation analysis of WND chromosomes and in the molecular assessment of both pre-symptomatic WND patients and carriers. Given the complexity and heterogeneity of the mutation spectrum of ATP7B, we suggest that haplotype analysis should be performed before full-scale mutation analysis.
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         Short tandem repeat (STR) markers
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         Molecular Medicine
         Gene Function
         Gene Expression
         Gene Therapy
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