https://scholars.lib.ntu.edu.tw/handle/123456789/589403
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor.author | LIANG-IN LIN | en_US |
dc.contributor.author | CHEN-HSUAN LIU | en_US |
dc.contributor.author | YAO-CHANG CHEN | en_US |
dc.contributor.author | MING-CHING SHEN | en_US |
dc.contributor.author | CHING-HUA WANG | en_US |
dc.contributor.author | Huang Y.-L. | en_US |
dc.contributor.author | Lin J.-K. | en_US |
dc.date.accessioned | 2021-12-01T08:28:59Z | - |
dc.date.available | 2021-12-01T08:28:59Z | - |
dc.date.issued | 1997-05 | - |
dc.identifier.issn | 0007-1048 | - |
dc.identifier.uri | https://scholars.lib.ntu.edu.tw/handle/123456789/589403 | - |
dc.description.abstract | Paroxysmal nocturnal haemoglobinuria (PNH) is an acquired haemolytic disorder caused by deficient biosynthesis of the glycosyl phosphatidylinositol (GPI) anchor in haemopoietic stem cells. PIG-A, an X-linked gene that participates in the first step of GPI-anchor synthesis, is responsible for PNH. Various abnormalities of the PIG-A gene have been demonstrated in all patients with PNH so far examined. In this study we characterized the somatic mutations in PIG-A gene in four Taiwanese patients with PNH. We identified five novel mutations in the PIG-A gene, three single nucleotide substitution mutations (-342, C-->G, codon 335, GGT-->AGT and codon 405, GCT-->GTT) and two frameshift mutations (codon 22, GGA-->G-A and codon 356, TGT-->TGTT) in the PIG-A gene. The -342 mutation was judged to be a polymorphism. Furthermore, three patients had previous clinicopathologic evidence which suggested aplastic anaemia (AA), before the development of PNH. One of these was found to have thrombocytopenia during follow-up. We suggest that the somatic PIG-A gene mutations highlight a subgroup of AA having a pathogenetic link with PNH. | en_US |
dc.language.iso | en | en_US |
dc.relation.ispartof | British journal of haematology | en_US |
dc.subject | aplastic anaemia | glycosylphosphatidylinositol (GPI) anchor | paroxysmal nocturnal haemoglobinuria | PIG-A gene | en_US |
dc.title | PIG-A gene mutations in four Taiwanese patients with paroxysmal nocturnal haemoglobinuria following aplastic anaemia | en_US |
dc.type | journal article | en |
dc.identifier.doi | 10.1046/j.1365-2141.1997.442690.x | - |
dc.identifier.pmid | 9163589 | - |
dc.identifier.scopus | 2-s2.0-0031007363 | - |
dc.identifier.url | https://scholars.lib.ntu.edu.tw/handle/123456789/502727 | - |
dc.relation.journalvolume | 97 | en_US |
dc.relation.journalissue | 2 | en_US |
dc.relation.pageend | 292 | en_US |
item.languageiso639-1 | en | - |
item.fulltext | no fulltext | - |
item.grantfulltext | none | - |
item.openairetype | journal article | - |
item.openairecristype | http://purl.org/coar/resource_type/c_6501 | - |
item.cerifentitytype | Publications | - |
crisitem.author.dept | Clinical Laboratory Sciences and Medical Biotechnology | - |
crisitem.author.dept | Laboratory Medicine | - |
crisitem.author.dept | Laboratory Medicine-NTUH | - |
crisitem.author.dept | Laboratory Medicine | - |
crisitem.author.dept | Laboratory Medicine-NTUH | - |
crisitem.author.orcid | 0000-0002-3561-1093 | - |
crisitem.author.orcid | 0000-0001-7789-2148 | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
顯示於: | 醫學院附設醫院 (臺大醫院) |
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