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A type of familial cleft of the soft palate maps to 2p24.2–p24.1 or 2p21–p12
http://hdl.handle.net/10069/23091
http://hdl.handle.net/10069/23091b57aa2ed-0dfd-4108-9e87-2fe02c12c722
名前 / ファイル | ライセンス | アクション |
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JHG55_124.pdf (632.6 kB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2010-03-30 | |||||
タイトル | ||||||
タイトル | A type of familial cleft of the soft palate maps to 2p24.2–p24.1 or 2p21–p12 | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Cleft of the soft palate | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Genome-wide linkage analysis | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Submucous cleft palate | |||||
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 |
Tsuda, Masayoshi
× Tsuda, Masayoshi× Yamada, Takahiro× Mikoya, Tadashi× Sogabe, Izumi× Nakashima, Mitsuko× Minakami, Hisanori× Kishino, Tatsuya× Kinoshita, Akira× Niikawa, Norio× Hirano, Akiyoshi× Yoshiura, Koh-ichiro |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Cleft of the soft palate (CSP) and the hard palate are subtypes of cleft palate. Patients with either condition often have difficulty with speech and swallowing. Nonsyndromic, cleft palate isolated has been reported to be associated with several genes, but to our knowledge, there have been no detailed genetic investigations of CSP. We performed a genome-wide linkage analysis using a single-nucleotide polymorphism-based microarray platform and successively using microsatellite markers in a family in which six members, across three successive generations, had CSP. A maximum LOD score of 2.408 was obtained at 2p24.2-24.1 and 2p21-p12, assuming autosomal dominant inheritance. Our results suggest that either of these regions is responsible for this type of CSP. | |||||
書誌情報 |
Journal of Human Genetics 巻 55, 号 2, p. 124-126, 発行日 2010-01-15 |
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ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 14345161 | |||||
EISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 1435232X | |||||
書誌レコードID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AA11206160 | |||||
DOI | ||||||
関連タイプ | isVersionOf | |||||
識別子タイプ | DOI | |||||
関連識別子 | 10.1038/jhg.2009.131 | |||||
権利 | ||||||
権利情報 | © 2010 The Japan Society of Human Genetics | |||||
著者版フラグ | ||||||
出版タイプ | AM | |||||
出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa | |||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | Journal of Human Genetics, 55(2), pp.124-126; 2010 |