| Item type |
文献 / Documents(1) |
| 公開日 |
2020-05-07 |
| 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 |
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資源タイプ |
journal article |
| 出版社版DOI |
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関連識別子 |
https://doi.org/10.1038/s41439-019-0054-x |
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関連名称 |
10.1038/s41439-019-0054-x |
| 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 |
A new heterozygous compound mutation in the CTSA gene in galactosialidosis |
| 著者 |
ナカジマ, ヒデキ
ウエノ, ミキ
アダチ, カオリ
ナンバ, エイジ
ナリタ, アヤ
月本, 準
伊藤, 孝司
カワカミ, アツシ
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| 抄録 |
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内容記述 |
Galactosialidosis is an autosomal recessive lysosomal storage disease caused by the combined deficiency of lysosomal β-galactosidase and neuraminidase due to a defect in the protective protein/cathepsin A. Patients present with various clinical manifestations and are classified into three types according to the age of onset: the early infantile type, the late infantile type, and the juvenile/adult type. We report a Japanese female case of juvenile/adult type galactosialidosis. Clinically, she presented with short stature, coarse facies, angiokeratoma, remarkable action myoclonus, and cerebellar ataxia. The patient was diagnosed with galactosialidosis with confirmation of impaired β-galactosidase and neuraminidase function in cultured skin fibroblasts. Sanger sequencing for CTSA identified a compound heterozygous mutation consisting of NM_00308.3(CTSA):c.746 + 3A>G and c.655-1G>A. Additional analysis of her mother’s DNA sequence indicated that the former mutation originated from her mother, and therefore the latter was estimated to be from the father or was a de novo mutation. Both mutations are considered pathogenic owing to possible splicing abnormalities. One of them (c.655-1G>A) is novel because it has never been reported previously. |
| 書誌情報 |
en : Human Genome Variation
巻 6,
p. 22,
発行日 2019-04-26
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| 収録物ID |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
2054345X |
| 出版者 |
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出版者 |
Springer Nature |
| 権利情報 |
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|
権利情報 |
This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
| EID |
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識別子 |
364805 |
| 言語 |
|
|
言語 |
eng |
hgv_6_22.pdf (692 KB)
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