目的:报道1例类脂蛋白沉积症家系,并对其家系成员的细胞外基质蛋白1(ECM1)基因突变进行分析.方法:PCR,DNA直接测序以及RFLP对患者的ECM1编码区进行了基因突变分析.结果:先证者及其胞姐在ECM1基因6号染色体上均发现纯合性单核苷酸颠换c.658T>G,产生纯合错义突变p.C220G.该家系中父母二人均为此突变的杂合子,该突变在100个非相关对照中未被检测出.结论:p.C220G突变是引起该家系临床病变的特异突变,不是多态性变化.中国科技核心期刊(ISTIC)03173-1752
目的鉴定一痒疹样营养不良型大疱性表皮松解症家系的基因突变,为进一步开展基因诊断和基因治疗奠定基础.方法应用聚合酶链反应(PCR)、DNA直接测序明确突变位点,根据突变位点设计等位基因特异性引物,用PC...
目的 分析并确定佩梅病(PMD)一大家系蛋白脂蛋白1(PLP1)基因突变及遗传特征.方法 收集先证者及其家系成员临床资料,采用多重连接依赖的探针扩增(MLPA)方法进行PLP1基因重复突变检测、DNA...
目的: 研究一Hartnup病家系的氨基酸转运蛋白基因(SLC6A19)的突变.方法: 提取Hartnup病患者及家族成员的基因组DNA,采用聚合酶链反应(PCR)扩增SLC6A19基因所有的外显子,...
Abstract Lipoid proteinosis is a rare autosomal recessive disease characterized by cutaneous and muc...
目的:检测2个痒疹样营养不良型大疱性表皮松解症家系的基因突变.方法:应用聚合酶链反应 (PCR)、RT-PCR、DNA直接测序明确突变位点.结果:发现家系1中先证者COL7A1基因的61号外显子521...
Background & objectives: Lipoid proteinosis (LP) is an autosomal recessive disease. Clinical charact...
Lipoid proteinosis (LP) is a rare autosomal recessive disorder caused by malfunction mutations in ex...
Lipoid proteinosis (LP) is one of the rare, recessive autosomal disorders clinically characterized b...
目的分析中国家族性高胆固醇血症(FH)患儿低密度脂蛋白受体(LDL-R)基因突变的情况,并为在婴幼儿时期此病的症前筛查提供确诊方法.方法以患儿及其父母的基因组DNA为模板,首先用聚合酶链反应(PCR)...
Background: The extracellular matrix protein 1 (ECM1) is a glycoprotein, expressed in skin and other...
[Background] Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by a hoars...
A number of mutations in extracellular matrix protein 1 (ECM1) that is a glycoprotein and expressed ...
Single nucleotide substitution mutations and polymorphisms in ECM1 gene in lipoid proteinosis in sib...
Lipoid proteinosis (LP) is a rare autosomal recessive disorder caused by malfunction mutations in ex...
The autosomal recessive disorder lipoid proteinosis results from mutations in extracellular matrix p...
目的鉴定一痒疹样营养不良型大疱性表皮松解症家系的基因突变,为进一步开展基因诊断和基因治疗奠定基础.方法应用聚合酶链反应(PCR)、DNA直接测序明确突变位点,根据突变位点设计等位基因特异性引物,用PC...
目的 分析并确定佩梅病(PMD)一大家系蛋白脂蛋白1(PLP1)基因突变及遗传特征.方法 收集先证者及其家系成员临床资料,采用多重连接依赖的探针扩增(MLPA)方法进行PLP1基因重复突变检测、DNA...
目的: 研究一Hartnup病家系的氨基酸转运蛋白基因(SLC6A19)的突变.方法: 提取Hartnup病患者及家族成员的基因组DNA,采用聚合酶链反应(PCR)扩增SLC6A19基因所有的外显子,...
Abstract Lipoid proteinosis is a rare autosomal recessive disease characterized by cutaneous and muc...
目的:检测2个痒疹样营养不良型大疱性表皮松解症家系的基因突变.方法:应用聚合酶链反应 (PCR)、RT-PCR、DNA直接测序明确突变位点.结果:发现家系1中先证者COL7A1基因的61号外显子521...
Background & objectives: Lipoid proteinosis (LP) is an autosomal recessive disease. Clinical charact...
Lipoid proteinosis (LP) is a rare autosomal recessive disorder caused by malfunction mutations in ex...
Lipoid proteinosis (LP) is one of the rare, recessive autosomal disorders clinically characterized b...
目的分析中国家族性高胆固醇血症(FH)患儿低密度脂蛋白受体(LDL-R)基因突变的情况,并为在婴幼儿时期此病的症前筛查提供确诊方法.方法以患儿及其父母的基因组DNA为模板,首先用聚合酶链反应(PCR)...
Background: The extracellular matrix protein 1 (ECM1) is a glycoprotein, expressed in skin and other...
[Background] Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by a hoars...
A number of mutations in extracellular matrix protein 1 (ECM1) that is a glycoprotein and expressed ...
Single nucleotide substitution mutations and polymorphisms in ECM1 gene in lipoid proteinosis in sib...
Lipoid proteinosis (LP) is a rare autosomal recessive disorder caused by malfunction mutations in ex...
The autosomal recessive disorder lipoid proteinosis results from mutations in extracellular matrix p...
目的鉴定一痒疹样营养不良型大疱性表皮松解症家系的基因突变,为进一步开展基因诊断和基因治疗奠定基础.方法应用聚合酶链反应(PCR)、DNA直接测序明确突变位点,根据突变位点设计等位基因特异性引物,用PC...
目的 分析并确定佩梅病(PMD)一大家系蛋白脂蛋白1(PLP1)基因突变及遗传特征.方法 收集先证者及其家系成员临床资料,采用多重连接依赖的探针扩增(MLPA)方法进行PLP1基因重复突变检测、DNA...
目的: 研究一Hartnup病家系的氨基酸转运蛋白基因(SLC6A19)的突变.方法: 提取Hartnup病患者及家族成员的基因组DNA,采用聚合酶链反应(PCR)扩增SLC6A19基因所有的外显子,...
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