提供的NPHS1人源重组蛋白(Q01)产品为带有GST标签的人源NPHS1部分序列重组蛋白,其对应的GeneID号为4868。 产品描述 与其它公司提供的重组蛋白不同,该NPHS1人源重组蛋白(Q01)产品为采用CFS的无细胞麦胚蛋白合成系统表达出来的重组蛋白,可表达出对细胞有毒性、易被蛋白酶降解的蛋白;并获得具有良好的可溶性,并有翻译...
5. antm软件的分析测序结果应用DNAStar软件包中的SeqmanTM(Lasergene公司产品) 软件进行序列对比分析。正常序列为GeneBank中NPHS1全基因组序列(NT_011109)。 6. 内切酶rt-pcr检测明确NPHS1基因突变区域后,利用限制性内切酶,对先证者及其家系成员的相应片段PCR产物进行酶切反应, 并对50名健康人进行了相应片段的扩增及...
Conclusions NPHS1 mutations in 6 of 40 children with sporadic SRNS in Southern Chinese Han ethnic group (15%) are detected.NPHS1 mutations are existed in Southern Chinese children,so it is necessary to perform the mutation analysis of NPHS1 gene in those children patients.%目的 研究我国南方...
intronboundariesofNPHS1andNPHS2genesinachildandhisparentsaswellas50unrelatedadultswithnormalurinetestresultsascontrolusingPCRanddirectsequencingtechniques.Results NomutationofNPHS2genewasdetected,whileanovelsplicesitemutationofIVS11+1G>Awithinintron11andamissensemutationwithinexon8(c.928G>A)inNPHS1geneweredetected...
INF2基因编码肌动蛋白调节蛋白的成核蛋白家族的一个成员,该基因突变最初在2个较大的常染色体显性遗传FSGS家族中被发现[参考文献137、Brown EJ, Schlöndorff JS, Becker DJ, et al. Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nat...
It is necessary to look for mutations in NPHS1 gene in the children with CNS. [Key words] nephrotic syndrome; genes NPHS1; mutation 先天性肾病综合征( c o n g e n i t a l n e p h r o t i c 19q13.1 ,是先天性芬兰型肾病(congenital nephrotic [ 1] syndrome ,CNS)通常在出生后...
NPHS1[HGNC][GeneCards][NCBI] 基因种类(locus group) protein-coding gene 同源简称(alias symbol) CNF|NPHN 基因家族代码(gene_family_id) 555|590|592|594[HGNC][GenScript] omim代码 602716 entrez码 4868[Vega] ensembl基因码 ENSG00000161270[Ensembl] ...
【关键词】肾病综合征;儿童;NPHS1基因;突变MutationalanalysisofNPHS1geneinchildrenwithsporadicsteroid-resistantnephroficsyndromeinSouthernChineseHanethnicgroupWANGDao-jing,YUZi—hua,MENGDa—chuan,FURong,WANGfing~ing,FENGDong—ning,YANGYong—hui.DepartmentofPediatric,FuzhouGenerdHospitalofNanjingMilitaryCommand,...
and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital...
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