Hirschsprung病に合併したウイリス動脈輪閉塞症患者におけるエンドセリンB受容体遺伝子の解析

概要

論文の詳細を見る
Familial occlusion of the Willis arterial circle has been reported but the genetic background of these cases is unknown. We analyzed the Endothelin B receptor (ETBR) gene by complete sequencing in a patient with Hirschsprung disease and the occlusion of the Willis arterial circle. The ETBR gene showed no evidence of mutation. This result suggests that the ETBR gene was not involved in the pathogenesis of Hirschsprung disease or the occlusion of Willis arterial circle in this patient. Other genes which are known to cause Hirschsprung disease such as the Endothelin 3 gene are currently being investigated in this patient.
東京女子医科大学の論文
1999-03-25