胰蛋白酶原
胰腺炎
囊性纤维化跨膜传导调节器
遗传性胰腺炎
胰腺疾病
突变
胰腺
基因
内科学
生物
胰蛋白酶
遗传学
医学
癌症研究
生物化学
酶
出处
期刊:Gut
[BMJ]
日期:2005-04-14
卷期号:54 (5): 728-729
被引量:27
标识
DOI:10.1136/gut.2004.055335
摘要
Pancreatitis is considered to be an autodigestive disease due to premature activation of trypsinogen inside the pancreas. Its genetic basis has recently been established with the identification of causal mutations in cationic trypsinogen gene ( PRSS1 ) in patients with hereditary1 and non-hereditary pancreatitis.2 Mutations in other genes such as SPINK1 (encoding pancreatic secretory trypsin inhibitor)3 and cystic fibrosis transmembrane conductance regulator ( CFTR )4,5 genes have also been associated with the disease. Tropical calcific pancreatitis is a type of idiopathic pancreatitis, reported particularly in the tropics. Recently, we and others demonstrated absence of PRSS1 mutations but significant prevalence of the N34S mutation …
科研通智能强力驱动
Strongly Powered by AbleSci AI