https://scholars.lib.ntu.edu.tw/handle/123456789/194888
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor | 小兒科 | en |
dc.contributor.author | Chiang, Shu-Chuan | en |
dc.contributor.author | Lee, Yu-May | 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 | Chiang, Shu-Chuan; Lee, Yu-May; Wang, Tso-Ren; Hwu, Wuh-Liang | en |
dc.date | 1999 | en |
dc.date.accessioned | 2008-12-29T06:04:04Z | - |
dc.date.accessioned | 2018-07-11T17:54:23Z | - |
dc.date.available | 2008-12-29T06:04:04Z | - |
dc.date.available | 2018-07-11T17:54:23Z | - |
dc.date.issued | 1999 | - |
dc.identifier.uri | http://ntur.lib.ntu.edu.tw//handle/246246/94780 | - |
dc.description.abstract | Fragile X syndrome is an important disease of hereditary mental retardation. Its prevalence in the Chinese population is not clear. We amplified FMR1 CGG repeats from male newborns' blood spots. Approximately 45% of the males had 28 CGG repeats and another 19% had 29 repeats. Besides this major peak, there was a second peak at 34 and 35 repeats. From the 1000 males studied, 3 were found to have repeat numbers in the high borderline range (each with 50, 52 and 53 repeats). This result provides a low but significant risk of fragile X syndrome in the Chinese population. | en |
dc.language | en-us | en |
dc.language.iso | en_US | - |
dc.relation | CLINICAL GENETICS v.55 n.5 pp.352-355 | en |
dc.relation.ispartof | CLINICAL GENETICS | - |
dc.subject | CGG repeat | en |
dc.subject | Chinese | en |
dc.subject | FMR1 | en |
dc.subject | fragile X syndrome | en |
dc.subject | FRAGILE-X-SYNDROME | en |
dc.subject | CGG REPEAT | en |
dc.title | Allele Distribution at the Fmr1 Locus in the General Chinese Population | en |
dc.type | journal article | en |
dc.relation.pages | 352-355 | - |
dc.relation.journalvolume | v.55 | - |
dc.relation.journalissue | n.5 | - |
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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