https://scholars.lib.ntu.edu.tw/handle/123456789/526047
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor.author | WUH-LIANG HWU | en_US |
dc.contributor.author | Huang Y.-T. | en_US |
dc.contributor.author | YIN-HSIU CHIEN | en_US |
dc.contributor.author | Yeh H.-Y. | en_US |
dc.contributor.author | Lul F. | en_US |
dc.contributor.author | Chou S.-P. | en_US |
dc.contributor.author | Lin J.-M. | en_US |
dc.contributor.author | Chiang S.-C. | en_US |
dc.creator | Wuh-Liang Hwu;Huang Y.-T.;Chien Y.-H.;Yeh H.-Y.;Lul F.;Chou S.-P.;Lin J.-M.;Chiang S.-C. | - |
dc.date.accessioned | 2020-12-16T02:26:15Z | - |
dc.date.available | 2020-12-16T02:26:15Z | - |
dc.date.issued | 2003 | - |
dc.identifier.issn | 0340-6717 | - |
dc.identifier.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0141765867&doi=10.1007%2fs00439-003-0994-5&partnerID=40&md5=4b65c45d63bd8dc764c43efca076fb94 | - |
dc.identifier.uri | https://scholars.lib.ntu.edu.tw/handle/123456789/526047 | - |
dc.relation.ispartof | Human Genetics | - |
dc.subject.classification | [SDGs]SDG3 | - |
dc.subject.other | ornithine carbamoyltransferase; asparagine; ornithine decarboxylase; threonine; ornithine carbamoyltransferase; codon; disorders of amino acid and protein metabolism; gene deletion; gene sequence; human; note; priority journal; amino acid substitution; base pairing; missense mutation; nonsense mutation; nucleic acid base substitution; article; genetics; missense mutation; nomenclature; Amino Acid Substitution; Humans; Mutation, Missense; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Terminology | - |
dc.title | Gene symbol: OTC: Disease: Ornithine carbamoyltransferase deficiency | en_US |
dc.type | Note | en |
dc.identifier.doi | 10.1007/s00439-003-0994-5 | - |
dc.identifier.pmid | 12974271 | - |
dc.identifier.scopus | 2-s2.0-0141765867 | - |
dc.relation.pages | 365 | - |
dc.relation.journalvolume | 113 | - |
dc.relation.journalissue | 4 | - |
item.cerifentitytype | Publications | - |
item.grantfulltext | none | - |
item.fulltext | no fulltext | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.openairetype | Note | - |
crisitem.author.dept | Pediatrics | - |
crisitem.author.dept | Medical Genetics-NTUH | - |
crisitem.author.dept | Pediatrics-NTUH | - |
crisitem.author.dept | Pediatrics | - |
crisitem.author.dept | Pediatrics-NTUH | - |
crisitem.author.dept | Medical Genetics-NTUH | - |
crisitem.author.orcid | 0000-0001-6690-4879 | - |
crisitem.author.orcid | 0000-0001-8802-5728 | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
顯示於: | 醫學系 |
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