直近一年間の累計
アクセス数 : ?
ダウンロード数 : ?
ID 114828
著者
Kawase, Yuriko Toshiba Central Hospital
キーワード
Cowden syndrome
PTEN gene
novel missense mutation
資料タイプ
学術雑誌論文
抄録
Cowden syndrome (CS) is an autosomal dominant inherited disorder characterized by macrocephaly and multiple hamartomas. The responsible gene is PTEN (phosphate and tensin homolog detected on chromosome 10), which negatively regulates cell proliferation and survival. We herein present a 46-year-old woman with the typical clinical features of CS. A DNA sequencing analysis of the coding regions and flanking introns of the PTEN gene revealed a novel heterozygous mutation (c.403A > G, p.Ile135Val) in exon 5 that had not been previously reported in CS. J. Med. Invest.
掲載誌名
The Journal of Medical Investigation
ISSN
13496867
13431420
cat書誌ID
AA12022913
AA11166929
出版者
Tokushima University Faculty of Medicine
67
1-2
開始ページ
200
終了ページ
201
並び順
200
発行日
2020-02
出版社版DOI
出版社版URL
フルテキストファイル
言語
eng
著者版フラグ
出版社版
部局
医学系