PHOX2B mutations in three Chinese patients with congenital central hypoventilation syndrome

来源 :Chinese Medical Journal | 被引量 : 0次 | 上传用户:dffder
下载到本地 , 更方便阅读
声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架
论文部分内容阅读
Congenital central hypoventilation syndrome (CCHS, OMIM #209880) is a rare autosomal dominant disorder of the autonomic nervous system (ANS) characterized by an abnormal autonomic ventilatory response to progressive hypercarbia and sustained hypoxemia. Pa Congenital central hypoventilation syndrome (CCHS, OMIM # 209880) is a rare autosomal dominant disorder of the autonomic nervous system (ANS) characterized by an abnormal autonomic ventilatory response to progressive hypercarbia and sustained hypoxemia. Pa
其他文献
AIM: To study the apoptosis induced by preoperative oral 5'-DFUR administration in gastric adenocarcinoma and its mechanism of action.METHODS: Sixty gastric can
AIM: To look for the evidence of human papilloma virus (HPV) infection in esophageal squamous cell carcinomas (ESCC) and to investigate the potential role and e
AIM: To investigate the possible mechanism of the protective effects of a bioactive fraction, Ganoderma lucidum proteoglycan (GLPG) isolated from Ganoderma luci
AIM: To examine the paclitaxel concentrations in plasma and ascites after its intravenous administration in patients with ascites due to peritonitis carcinomato
AIM: To study the blood-brain barrier integrity in prehepatic portal hypertensive rats induced by partial portal vein ligation, at 14 and 40 d after ligation wh
AIM: To evaluate the potential association between p53 codon 72 polymorphism and sporadic colorectal adenocarcinoma development, and human papillomavirus (HPV)
Mesenteric ischemia disorders are precipitated by a circulation insufficiency event that deprives one or several abdominal organs of adequate respiration to mee
伴随着我国城市化的不断推进,城市河流和滨水景观的设计,对我国的城市发展有着重大的意义.每个城市的产生都离不开自然环境的生成,同时,城市与河流是相互联系的,为了人类的生
作为教师,要时刻牢记“班级即家”,活动即课堂,升旗仪式、各种体育、文娱活动都是教育孩子健康成长的良好契机.在“班级即家”的这一理念指引下,寓教于乐,以教为乐.
The present review gives an updated overview of transfusion transmitted virus (TTV), a novel agent, in relation to its molecular characteristics, epidemiologica