| Item type |
文献 / Documents(1) |
| 公開日 |
2018-06-06 |
| アクセス権 |
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|
アクセス権 |
open access |
| 資源タイプ |
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|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| 出版社版DOI |
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|
関連識別子 |
https://doi.org/10.2220/biomedres.14.223 |
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関連名称 |
10.2220/biomedres.14.223 |
| 出版タイプ |
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|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| タイトル |
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|
タイトル |
PCR-SSCP SCREENING OF β-AMYLOID PRECURSOR PROTEIN MUTATIONS IN TWO JAPANESE PEDIGREES WITH FAMILIAL EARLY ONSET ALZHEIMER’S DISEASE |
| タイトル別表記 |
|
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その他のタイトル |
FAMILIAL ALZHEIMER’S DISEASE |
| 著者 |
クドウ, エイジ
イイ, クニオ
イワハナ, ヒロユキ
吉本, 勝彦
ヒザワ, カズオ
板倉, 光夫
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| 抄録 |
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内容記述 |
Five different types of point mutation of the β-amyloid precursor gene (APP) have been reported to cosegregate with familial Alzheimer’s disease (FAD) in each of examined pedigrees (Table 1). Here we report a screening result of the APP gene mutations in two Japanese pedigrees with FAD of an early onset type which have previously been reported (2, 3). Primer pairs corresponding respectively to each of 19 exons of the APP gene were designed. Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis was performed on genomic DNA of one affected member from each of these two pedigrees. In addition, a pair of primers was designed to assess specifically codon 717 of the APP gene even in the poorly-preserved sample of genomic DNA. PCR-SSCP analysis of all 19 exons of the APP gene of both patients did not show any mutations, but disclosed one polymorphism in the intron 9. Sequencing of exons 16 and 17 of the APP gene in both patients, where all reported pathogenic mutations are located, revealed normal sequences. The results support that the genetic defect causing FAD is heterogeneous and that most cases with FAD are apparently due to the gene-defect of other than the APP gene. |
| 書誌情報 |
en : Biomedical Research
巻 14,
号 3,
p. 223-231,
発行日 1993
|
| 収録物ID |
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収録物識別子タイプ |
ISSN |
|
収録物識別子 |
1880313X |
| 収録物ID |
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|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
03886107 |
| 収録物ID |
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|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA12050384 |
| 収録物ID |
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|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA00110128 |
| 出版者 |
|
|
出版者 |
バイオメディカルリサーチプレス |
| EID |
|
|
識別子 |
71370 |
| 言語 |
|
|
言語 |
eng |
biomedres_14_3_223.pdf (1.29 MB)
