نتایج جستجو برای: iranian novel mutation
تعداد نتایج: 1082005 فیلتر نتایج به سال:
Background and Objective: CCR5 is known as a main co-receptor in HIV infection. Many studies demonstrated that 32bp deletion in both CCR5 alleles provide natural resistance to HIV infection, so new treatment approaches are based on inducing this resistance by means of gene and cell therapies. This projects aim was the discovery of suitable candidates for new therapeutic strategies in addition t...
Abstract Background Autosomal recessive non-syndromic hearing loss (ARNSHL) is genetically and phenotypically heterogeneous with over 110 genes causally implicated in syndromic loss. Here, we investigate the genetic etiology of deafness two GJB2 GJB6 negative patients presenting pre-lingual, progressive, severe Methods Targeted exome sequencing (TES) using Next Generation Illumina Sequencing wa...
BACKGROUND Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic renal disorder caused by mutation in 2 genes PKD1 and PKD2. Thus far, no mutation is identified in approximately 10% of ADPKD families, which can suggest further locus heterogeneity. Owing to the complexity of direct mutation detection, linkage analysis can initially identify the responsible gene in appro...
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