https://scholars.lib.ntu.edu.tw/handle/123456789/519574
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Yang C.-C. | en_US |
dc.contributor.author | Kuo H.-C. | en_US |
dc.contributor.author | You H.-L. | en_US |
dc.contributor.author | Wang J. | en_US |
dc.contributor.author | Huang C.-C. | en_US |
dc.contributor.author | Liu C.-Y. | en_US |
dc.contributor.author | Lan M.-Y. | en_US |
dc.contributor.author | Stephenson D.A. | en_US |
dc.contributor.author | MING-JEN LEE | en_US |
dc.date.accessioned | 2020-11-03T11:32:29Z | - |
dc.date.available | 2020-11-03T11:32:29Z | - |
dc.date.issued | 2008 | - |
dc.identifier.issn | 0003-4800 | - |
dc.identifier.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-49449091689&doi=10.1111%2fj.1469-1809.2008.00463.x&partnerID=40&md5=f9125a13d60d18f178565751c8a76cc1 | - |
dc.identifier.uri | https://scholars.lib.ntu.edu.tw/handle/123456789/519574 | - |
dc.description.abstract | Acute intermittent porphyria (AIP), an autosomal dominant disorder, is caused by partial deficiency of hydroxymethylbilane synthase (HMBS) affecting heme biosynthesis. Patients with AIP are characterized by recurrent abdominal pain, port-wine urine, and motor paresis. The disease can be provoked by changes in hormone levels, drugs and fasting. Molecular analysis for twenty-four unrelated Chinese AIP patients from Taiwan identified twenty-five HMBS mutations. There were 10 missense (40%), four nonsense (16%), five frame-shift (20%) and six splice site (24%) mutations. More than a half (15/25, 60%) of these mutations are predicted to produce a truncated protein. Four (c.33 + 5C>A, Arg26Cys, Arg26His, Arg325X) occurred more than once among the 24 families and one individual carried two mutations in the same allele, a missense (Gly221Asp) and a splice site mutation (c.652-1G>A). Of the 25 mutations, eleven were novel (Arg149Pro, Gly218Arg, Asn322X, Gly221Asp, Pro313X, c.88-4_-16delAAGTCTCTACCCG, c.1008_1019delCAGCCTGGCCAA, c.113delT, c.88-4_-16delAAGTCTCTACCCGinsCA, c.160delA, c.902_909delTCCCTGCC). No correlation between genetic defect and phenotype (both clinical and biochemical) was observed in this study. ? 2008 The Authors Journal compilation ? 2008 Blackwell Publishing Ltd/University College London. | - |
dc.relation.ispartof | Annals of Human Genetics | - |
dc.subject.classification | [SDGs]SDG3 | - |
dc.subject.other | arginine; asparagine; drug; glycine; heme; hormone; porphobilinogen deaminase; proline; abdominal pain; acute intermittent porphyria; adolescent; adult; allele; article; autosomal dominant disorder; Chinese; clinical article; controlled study; diet restriction; disease association; enzyme deficiency; family study; female; frameshift mutation; gene mutation; genetic disorder; heme synthesis; human; male; missense mutation; nonsense mutation; paresis; phenotype; priority journal; recurrent disease; Taiwan; urine color; Adolescent; Adult; Asian Continental Ancestry Group; Base Sequence; DNA; DNA Mutational Analysis; Female; Humans; Hydroxymethylbilane Synthase; Male; Mutation; Porphyria, Acute Intermittent; Taiwan | - |
dc.title | HMBS mutations in chinese patients with acute intermittent porphyria | en_US |
dc.type | journal article | en |
dc.identifier.doi | 10.1111/j.1469-1809.2008.00463.x | - |
dc.identifier.pmid | 18627369 | - |
dc.identifier.scopus | 2-s2.0-49449091689 | - |
dc.relation.pages | 683-686 | - |
dc.relation.journalvolume | 72 | - |
dc.relation.journalissue | 5 | - |
item.cerifentitytype | Publications | - |
item.fulltext | no fulltext | - |
item.openairecristype | http://purl.org/coar/resource_type/c_6501 | - |
item.openairetype | journal article | - |
item.grantfulltext | none | - |
crisitem.author.dept | Neurology-NTUH | - |
crisitem.author.dept | Medical Genetics-NTUH | - |
crisitem.author.orcid | 0000-0001-8732-2448 | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
Appears in Collections: | 醫學系 |
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