https://scholars.lib.ntu.edu.tw/handle/123456789/194906
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor | 小兒科 | en |
dc.contributor.author | WANG, TSO-REN | en |
dc.contributor.author | HWU, WUH-LIANG | en |
dc.creator | 王作仁;胡務亮 | zh-tw |
dc.creator | WANG, TSO-REN;HWU, WUH-LIANG | en |
dc.date | 2000 | en |
dc.date.accessioned | 2008-12-29T06:07:10Z | - |
dc.date.accessioned | 2018-07-11T17:54:26Z | - |
dc.date.available | 2008-12-29T06:07:10Z | - |
dc.date.available | 2018-07-11T17:54:26Z | - |
dc.date.issued | 2000 | - |
dc.identifier.uri | http://ntur.lib.ntu.edu.tw//handle/246246/94798 | - |
dc.description.abstract | DNA screening for mutations in the alpha-L-iduronidase (IDUA ) gene was performed in a Chinese mucopolysaccharidosis type IH/S patient. The patient had two different mutations: the maternal allele has L346R (t-g transversion in codon 346) and the paternal allele has 388-3c-g (c-g transversion at position -3 of the 3' splice site of intron 2). In transfected COS-7 cells, L346R showed no appreciable IDUA activity (0.4% of normal activity), although it did not cause an apparent reduction in IDUA mRNA or protein level. The 388-3c-g mutation profoundly affects normal splicing leading to a very unstable mRNA. Expression of the IDUA cDNA containing the mutated acceptor splice site showed trace amounts of enzyme activity (1.6% of normal activity). The results provide further support for the importance of cytosine at the -3 position in RNA processing. | en |
dc.language | en-us | en |
dc.language.iso | en_US | - |
dc.relation | CLINICAL GENETICS v.57 n.2 pp.131-136 | en |
dc.relation.ispartof | CLINICAL GENETICS | - |
dc.subject | acceptor splice site | en |
dc.subject | alpha-L-iduronidase | en |
dc.subject | MPS IH/S | en |
dc.subject | novel mutations | en |
dc.subject | MOLECULAR-GENETICS | en |
dc.subject | CDNA ISOLATION | en |
dc.title | Identification and Characterization of-3c-G Acceptor Splice Site Mutation in Human Alpha-L-Iduronidase Associated with Mucopolysaccharidosis Type Ih/S | en |
dc.type | journal article | en |
dc.relation.pages | 131-136 | - |
dc.relation.journalvolume | v.57 | - |
dc.relation.journalissue | n.2 | - |
item.openairecristype | http://purl.org/coar/resource_type/c_6501 | - |
item.openairetype | journal article | - |
item.languageiso639-1 | en_US | - |
item.grantfulltext | none | - |
item.cerifentitytype | Publications | - |
item.fulltext | no fulltext | - |
顯示於: | 醫學系 |
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