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フルテキストURLA020050000110.pdf ( 121.0KB ) 公開日 2010-04-19
タイトルA Family with Hereditary Protein C Deficiency and Brachydactyly Type A3
作成者Tominaga, Takayuki
Nakamori, Yoshitaka
Taguchi, Akihito
Miyazaki, Mutsuko
Sakuragi, Shizu
Shinohara, Kenji
作成者ヨミトミナガ, タカユキ
ナカモリ, ヨシタカ
タグチ, アキヒト
ミヤザキ, ムツコ
サクラギ, シズ
シノハラ, ケンジ
作成者所属山口大学医学部
内容記述(抄録等)We diagnosed a patient with deep vein thrombosis with congenital type Ⅱprotain C deficiency from the mutation in the C-terminal part of the propeptide encoded by exon 3 whose mutation has already been reported and all of the other affected members of protein C deficiency had also shortening of the midphalanx of the little fingers, brachymesophalangia-5, type A3 of the midphalanx of the little fingers, brachmesophalangia-5, type A3 of brachydactyly. These two abnormalities are co-transmitted by a mechanism which remains tobe determined.
本文言語eng
著者キーワードProtein C deficiency
brachydactyly type A3
主題医学
資料タイプtext
ファイル形式application/pdf
出版者Yamaguchi University Graduate School of Medicine
NII資料タイプ紀要論文
ISSN0513-1812
NCIDAA00594272
学内刊行物(紀要等)The bulletin of the Yamaguchi Medical School
掲載誌名The bulletin of the Yamaguchi Medical School
掲載誌名別表記山口医科大学紀要
50
1-4
開始ページ77
終了ページ80
発行日2003-12
著者版/出版社版出版社版
リポジトリIDA020050000110
地域区分山口大学
URIhttp://www.lib.yamaguchi-u.ac.jp/yunoca/handle/A020050000110