Peutz-Jeghers syndrome (PJS, MIM 175,2000) is a disease of autosomal dominant inheritance that is characterised by hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. In addition to problems such as intussusception, PJS predisposes to cancers of several sites. The unusual combination of...
Peutz-Jeghers syndrome. Peutz-Jeghers syndrome (PJS, MIM 175,2000) is a disease of autosomal dominant inheritance that is characterised by hamartomatous gastrointestinal polyps an... I. P. M. Tomlinson,R.S. Houlston - 《Vestnik Khirurgii Imeni I.i.grekova》 被引量: 945发表: 1981年 Femini...
Peutz-Jeghers syndrome. Peutz-Jeghers syndrome (PJS, MIM 175,2000) is a disease of autosomal dominant inheritance that is characterised by hamartomatous gastrointestinal polyps an... I. P. M. Tomlinson,R.S. Houlston - 《Vestnik Khirurgii Imeni I.i.grekova》 被引量: 945发表: 1981年 Peutz...
Peutz-Jeghers syndrome has three cardinal features, gastrointestinal polyposis, mucocutaneous pigmentation and autosomal dominant inheritance. This syndrome is clinically important because of the complication of gastrointestinal polyps, leading to abdominal pain, anemia due to gastrointestinal bleeding, intussuscept...
peutz综合征marfanjeghers致病基因突变 第三军医大学硕士学位论文 Mutations screening for Peutz・ ・ Jegherssyndrome and Marfan syndrome Abstract Monogenic diseaseis controlled by a pair ofallelesandcharacterizedasMendelian inheritance.Itis anaturalmodelto study the relationship betweendiseaseand gene.There are...
综合征marfanpeutzjeghers致病基因突变检测 第三军医大学研究生学位论文独创性声明秉承学校严谨的校风和科研作风,本人申明所呈交的论文是我本人在导师指导下进行的研究工作及取得的研究成果。据我所知,除了文中特别加以标注和致谢的地方外,论文中不包含其他人已经发表或撰写过的研究成果,也不包含为获得我校或其他教育机构...
Peutz-Jeghers Syndrome (PJS) is an infrequent syndrome with autosomal dominant inheritance, linked to a germline mutation of serine threonine kinase 11, which was initially identified by Peutz in 1921. It is described by gastrointestinal hamartomatous polyps, usually encountered in the small intestine...
Jeghers et al. [4], from Boston USA, described ten further cases in 1949 with these clinical features, but noted that the family connection corresponded to simple Mendelian dominant inheritance. Peutz-Jeghers syndrome is characterised by abnormal facial pigmentation, intestinal polyposis and frequently...
Peutz-Jeghers syndrome. Peutz-Jeghers syndrome (PJS, MIM 175,2000) is a disease of autosomal dominant inheritance that is characterised by hamartomatous gastrointestinal polyps an... I. P. M. Tomlinson,R.S. Houlston - 《Vestnik Khirurgii Imeni I.i.grekova》 被引量: 945发表: 1981年 Peutz...
第三军医大学 硕士学位论文 Peutz--Jeghers综合征和Marfan综合征家系致病基因突变检测 姓名:***申请学位级别:硕士 专业:遗传学 指导教师:** 201205 第三军医大学硕士学位论文 Peutz—Jeghers综合征和Marfan综合征家系致病 基因突变检测 摘要 单基因遗传病是指受一对等位基因影响的遗传病,表现为典型的孟德尔遗传模式, ...