Nearly 30% of ARA cases present mutations in the 渭 heavy constant region gene. Here, we present a 7-month-old patient, born from non-consanguineous parents, who is affected by ARA due to defect in the 渭 heavy chain. The genetic study showed that the patient is compound heterozygous for...
Autosomal recessive agammaglobulinemia due to defect in μ heavy chain caused by a novel mutation in the IGHM geneGenes and Immunity is a journal dedicated to functional genetics of the immune response. Emphasizing studies that demonstrate genetic, genomic or functional variation in the immune ...
mouse model has knocked outIghmgene exon 1~6 andIghdgene exon 1~5. Research Applications Immunology; Inflammation; Autoimmunity Research. Phenotype Validation • Detection of B cells Figure 1. Detection of B cells in peripheral blood and spleen of Ighm Ighd-DKO homozygous mice. ...
therapies.TFE3(transcription factor binding toIGHMenhancer 3) gene fusions are a diagnostic genomic alteration in microphthalmia-associated transcription factor (... GD Basu,K Kras,CA Flannery,... - 《Journal of Clinical Oncology》 被引量: 0发表: 2024年 Case report: Metastatic refractory undifferen...
The sizes of the gross deletions in IGHM-, BTK-, and Artemis-deficient patients were determined with scanning PCRs for gene segments, exons, and subsequently for intronic regions. Seven unrelated IGHM-deficient patients with a homozygous gross deletion were studied. Of these patients, three were ...
PurificationAffinity purified. FormLiquid IsotypeIgG ConjugationUnconjugated StorageAliquot and store at -20 °C. Avoid repeated freeze/thaw cycles. Molecular WeightCalculated MW: 49 kDa/51 kDa Observed MW: Refer to figures GeneID3507 Gene SymbolIGHM ...
Gene Ontology: Hyperlink Other Designations: immunoglobulin heavy constant mu 1 Related Product TM0004 Protein BlueRed Marker 售后保障 蚂蚁淘生物188,秉承蚂蚁淘一贯的严谨态度,由蚂蚁淘公司专业人员负责品控、采购、物流、销售、售后,保障正品优质。以“快速好省,为科研提供好产品、好价格”为理念,直接链接原厂家,...
Created with Sketch. 图:1/3 IGHM Antibody (11016-1-AP) in IHC (P) Immunohistochemistry of paraffin-embedded human tonsillitis tissue slide using 11016-1-AP ( IGHM antibody) at dilution of 1:200 (under 40x lens) heat mediated antigen retrieved with Tris-EDTA buffer (pH 9).View more ...
IGHM[HGNC][GeneCards][NCBI] 基因种类(locus group) other 同源简称(alias symbol) 基因家族代码(gene_family_id) 349[HGNC][GenScript] omim代码 147020 entrez码 3507[Vega] ensembl基因码 ENSG00000211899[Ensembl] 基因家族(gene family) Immunoglobulin heavy locus at 14q32.33 ...
The TATGG haplotype derived from LD across three SNPs from IGHM gene and two SNPs from IGHD gene was significantly over-transmitted from parents to affect offspring. Our results suggest that genetic variants at the IGH locus are associated with T1D susceptibility. These variations may predispose ...