1) ichthyosis bullosa of Siemens
Siemens大疱性鱼鳞病
1.
To identify gene mutation of a patient with ichthyosis bullosa of Siemens,punch biopsies from typical lesion were exam-ined by light microscopy and transmission electron microscopy,and polymerase chain reaction(PCR)and DNA sequencing were employed to mutation detection.
为研究Siemens大疱性鱼鳞病患者基因突变情况,对1例Siemens大疱性鱼鳞病患者皮损进行组织病理及电镜观察,并采用聚合酶链反应及DNA直接测序方法,检测患者基因突变。
2) lamellar ichthyosis
大疱性鱼鳞病
1.
Objective To identify the mutation genes of paitents and their families with ichthyosis vulgaris;X-linked ichthyosis;lamellar ichthyosis;epidermolytic hyperkeratosis ichthyosis and to analyse the possible correlations between genotype and phenotype.
目的对四种鱼鳞病(寻常型鱼鳞病;X性-联鱼鳞病;板层状鱼鳞病;大疱性鱼鳞病)的致病基因进行精细定位,并分析其基因型与临床表型的关系。
3) ichthyosis vulgaris
寻常性鱼鳞病
1.
Mapping of pathogenic genes in two families with autosomal dominant ichthyosis vulgaris;
两个常染色体显性遗传寻常性鱼鳞病家系致病基因的定位
2.
Gene Mapping and FLG Gene Mutation Analysis in Four Ichthyosis Vulgaris Families;
四个寻常性鱼鳞病家系致病基因的定位及FLG基因突变研究
4) X-linked ichthyosis
X-性联鱼鳞病
1.
Objective To identify the mutation genes of paitents and their families with ichthyosis vulgaris;X-linked ichthyosis;lamellar ichthyosis;epidermolytic hyperkeratosis ichthyosis and to analyse the possible correlations between genotype and phenotype.
③X-性联鱼鳞病患者STS基因完全缺失。
5) Linear IgA Bullous Dermatitis
线性IgA大疱病
补充资料：鱼鳞册
1.见"鱼鳞图册"。
说明：补充资料仅用于学习参考，请勿用于其它任何用途。
参考词条