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

scientific article

High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1136/JMG.33.6.521
P932PMC publication ID1050643
P698PubMed publication ID8782057
P5875ResearchGate publication ID14420908

P2093author name stringTai TY
Wang TR
Cox DW
Chuang LM
Jang MH
Wu HP
Lin BJ
Sue WC
P2860cites workThe Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease geneQ24336948
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding proteinQ28269062
Isolation of a partial candidate gene for Menkes disease by positional cloningQ28269072
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPaseQ28269082
Wilson disease and Menkes disease: new handles on heavy-metal transport.Q34334396
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes geneQ34348941
Mapping, cloning and genetic characterization of the region containing the Wilson disease gene.Q34348948
A genetic study of Wilson's disease: evidence for heterogeneityQ35569385
Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locusQ37680904
Wilson's disease in the United Kingdom and Taiwan. I. General characteristics of 142 cases and prognosis. II. A genetic analysis of 88 casesQ43815708
Esterase D and retinoblastoma gene loci are tightly linked to Wilson's disease in Chinese pedigrees from TaiwanQ44975693
A contiguous linkage map of chromosome 13q with 39 distinct loci separated on average by 5.1 centimorgansQ46736355
The Wilson disease gene: spectrum of mutations and their consequencesQ48075338
Evidence for linkage between Wilson disease and esterase D in three kindreds: detection of linkage for an autosomal recessive disorder by the family study methodQ48409772
Wilson's disease. Clinical and laboratory maniestations in 40 patientsQ66914136
Allelic association and linkage studies in Wilson diseaseQ72658336
P433issue6
P407language of work or nameEnglishQ1860
P921main subjectWilson diseaseQ117121
P304page(s)521-523
P577publication date1996-06-01
P1433published inJournal of Medical GeneticsQ14640281
P1476titleHigh frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease
P478volume33