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一个常染色体显性遗传先天性眼外肌纤维化家系A Family History of Congenital Fibrosis of the Extraocular Muscle with Autosomal Dominant Inheritance
眼外肌纤维化 家系 常染色体显性遗传
2008/1/20
摘要为寻找疾病相关基因，通过随访调查、体检、病理检查等手段，发现了一眼外肌纤维化家系4代中有15人患有眼外肌纤维化综合征，主要表现先天性上眼睑下垂、下颌上举、头后仰、双眼固定下转位和被动牵拉试验阳性，眼外肌病理检查结果为肌纤维化和玻璃样变性，所有阳性体征者除眼球运动限制程度有区别外，其他眼部症状基本相同。遗传分析表明，该疾病属常染色体显性遗传。该家系可作为寻找眼外肌纤维化疾病相关基因的宝贵资源。A...
Mutation Analysis of CFTR Gene in 70 Iranian Cystic Fibrosis Patients
Cystic fibrosis Cystic fibrosis transmembrane conductance regulator Mutations Iran Single-stranded conformational polymorphism
2010/2/3
Cystic fibrosis (CF) is the most common inherited disorder in Caucasian populations, with over 1400 cystic fibrosis transmembrane conductance regulator (CFTR) mutations. The type of mutations and thei...