| ○種別 (必須): | □ | 学術論文 (審査論文)
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| ○言語 (必須): | □ | 英語
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| ○カテゴリ (推奨): |
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| ○学究種別 (推奨): |
| ○組織 (推奨): |
| ○著者 (必須): | 1. | (英) Kohmoto Tomohiro (日) (読)
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| 2. | (英) Tsuji Atsumi (日) (読)
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| 3. | (英) Morita Kei-Ichi (日) (読)
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| 4. | 成戸 卓也
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| 5. | 増田 清士
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| 6. | (英) Kashimada Kenichi (日) (読)
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| 7. | (英) Enomoto Keisuke (日) (読)
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| 8. | (英) Morio Tomohiro (日) (読)
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| 9. | (英) Harada Hiroyuki (日) (読)
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| 10. | 井本 逸勢
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| ○題名 (必須): | □ | (英) A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome. (日)
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| ○要約 (任意): | □ | (英) Stickler syndrome (STL) is an autosomal, dominantly inherited, clinically variable and genetically heterogeneous connective tissue disorder characterized by ocular, auditory, orofacial and skeletal abnormalities. We conducted targeted resequencing using a next-generation sequencer for molecular diagnosis of a 2-year-old girl who was clinically suspected of having STL with Pierre Robin sequence. We detected a novel heterozygous missense mutation, NM_001854.3:n.4838G>A [NM_001854.3 (COL11A1_v001):c.4520G>A], in COL11A1, resulting in a Gly to Asp substitution at position 1507 [NM_001854.3(COL11A1_i001)] within one of the collagen-like domains of the triple helical region. The same mutation was detected in her 4-year-old brother with cleft palate and high-frequency sensorineural hearing loss. (日)
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| ○キーワード (推奨): |
| ○発行所 (推奨): |
| ○誌名 (必須): | □ | Human Genome Variation ([Nature Publishing Group])
(eISSN: 2054-345X)
| ○ISSN (任意): | □ | 2054-345X
ISSN: 2054-345X
(eISSN: 2054-345X) Title: Human genome variationTitle(ISO): Hum Genome VarPublisher: Springer Nature (NLM Catalog)
(Scopus)
(CrossRef)
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| ○巻 (必須): | □ | 3
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| ○号 (必須): | □ | 7
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| ○頁 (必須): | □ | 16003 16003
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| ○都市 (任意): |
| ○年月日 (必須): | □ | 西暦 2016年 4月 7日 (平成 28年 4月 7日)
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| ○URL (任意): |
| ○DOI (任意): | □ | 10.1038/hgv.2016.3 (→Scopusで検索)
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| ○PMID (任意): | □ | 27081569 (→Scopusで検索)
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| ○Scopus (任意): | 1. | 2-s2.0-85001915862
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| ○備考 (任意): | 1. | (英) Article.ELocationID: 10.1038/hgv.2016.3 (日)
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| 2. | (英) Article.PublicationTypeList.PublicationType: Journal Article (日)
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| 3. | (英) OtherID: PMC4823386 (日)
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