| Item type |
[ELS]学術雑誌論文 / Journal Article(1) |
| 公開日 |
2017-01-23 |
| タイトル |
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|
タイトル |
A Rare Super-Unstable Hemoglobin Variant, Hb Monroe [β30(B12)Arg→Thr], Found in Two Myanmar Children |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| 著者 |
HARANO, Teruo
HARANO, Keiko
WIN, Ne
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| 著者所属(英) |
|
|
|
en |
|
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Department of Biochemistry, Kawasaki Medical School |
| 著者所属(英) |
|
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|
en |
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Department of Nutrition, Faculty of Medical Professions, Kawasaki University of Medical Welfare |
| 著者所属(英) |
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|
en |
|
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Pathology Research Division, Department of Medical Research (Lower Myanmar) |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
PCR-sequencing |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Hb analysis |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Union of Myanmar |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Hb Monroe |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
β-thalassemia |
| 抄録(英) |
|
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en |
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During the making of a precise molecular diagnosis of blood from transfusion dependent anemic patients in the Union of Myanmar by the PCR-sequencing technique, we encountered two Myanmar children (My-194 and My-201) with a rare abnormal hemoglobin, Hb Monroe [β30(B12)Arg→Thr], which causes β^0-thalassemia due to missplicing in the course of mRNA processing. One of the children, My-194, was a compound heterozygote for Hb Monroe and a thalassemia mutation of βIVS I-5 G→C, who had a condition of severeβ^+-thalassemia resembling a β^0-thalassemia, while the other, My-201, a homozygote for Hb Monroe. However, Hb analyses of My-194 with IEF and DEAE-HPLC revealed a normal pattern, suggesting that it may be due to blood transfusion. Hb analyses of My-201 showed the presence of Hb A to be about 0%, with Hb F being the main Hb component, suggesting that in this case Hb F instead of Hb A may be produced as the main Hb. |
| 書誌情報 |
en : Kawasaki medical journal
巻 27,
号 3･4,
p. 91-97,
発行日 2001
|
| URL |
|
|
識別子 |
http://igakkai.kms-igakkai.com/wp/wp-content/uploads/2001en/27(3.4)91-97.2001.pdf |
|
識別子タイプ |
URI |
| DOI |
|
|
|
識別子タイプ |
DOI |
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|
関連識別子 |
https://doi.org/10.11482/KMJ27(3.4)91-97.2001.pdf |
| ISSN |
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|
収録物識別子タイプ |
PISSN |
|
収録物識別子 |
0385-0234 |
| ISSN |
|
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収録物識別子タイプ |
EISSN |
|
収録物識別子 |
2434-3404 |
| 雑誌書誌ID |
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|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA00710169 |
| 雑誌書誌ID |
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|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA12029005 |
| 著者版フラグ |
|
|
出版タイプ |
VoR |
KJ00001983886.pdf (456.6 kB)
