Amyloidosis due to a mutation of the gelsolin gene in an American family with lattice corneal dystrophy type II.
Amyloidosis due to a mutation of the gelsolin gene in an American family with lattice corneal dystrophy type II.
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一个患有 II 型格子角膜营养不良的美国家庭因凝溶胶蛋白基因突变而导致淀粉样变性。
DOI：
10.1056/nejm199112193252505
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发表时间：
1991
期刊：
影响因子：
--
通讯作者：
Frangione,B
中科院分区：
文献类型：
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作者：
Gorevic,PD;Munoz,PC;Gorgone,G;PurcellJr,JJ;Rodrigues,M;Ghiso,J;Levy,E;Haltia,M;Frangione,B
淀粉样蛋白是一种均质的、主要是细胞外的蛋白质物质，具有纤维状超微结构，当用刚果红染色并通过偏光显微镜观察时具有绿色双折射特性。根据相关疾病或病理状态，淀粉样蛋白原纤维由不同的亚基蛋白组成，其中至少有13种分子种类已被描述。原纤维亚基蛋白采用的命名法反映了这样一个事实，即大多数形式的淀粉样变性与血清蛋白前体有关，在几种类型的遗传性疾病中，血清蛋白前体是可以通过基于DNA的技术鉴定的变异分子。这种命名法的一个例子是AL，表示.
AMYLOID is a homogeneous, largely extracellular, proteinaceous material with a fibrillar ultrastructure and the property of green birefringence when stained with Congo red and viewed by polarization microscopy. Depending on the associated disease or pathologic state, amyloid fibrils are composed of distinct subunit proteins, at least 13 molecular species of which have been described. The nomenclature adopted for fibril subunit proteins reflects the fact that most forms of amyloidosis are associated with serum protein precursors, which in several types of hereditary disease are variant molecules that can be identified by DNA-based techniques. An example of this nomenclature is AL for . . .