1)in-frame deletion框内缺失突变 英文短句/例句 1.Construction of Streptococcus mutans comE Mutant Strain Using In-frame Deletion System框内缺失突变法构建变形链球菌comE基因突变株 2.excision repair deficient mutant剪切修复缺失突变型 3.The Effect and Mechanism of mtDNA4834bp Deletion in Model of Inner ...
In patients from an unrelated family a 12-nucleotide deletion (c.2997_3008del) in FLNC resulting in a predicted in-frame four-residue deletion (p.Val930_Thr933del) in the seventh repeat of filamin C was identified. Both affected family members, mother and daughter, but not unrelated ...
A Four Amino Acid Deletion Polymorphism in the Third Intracellular Loop of the Human α2C-Adrenergic Receptor Confers Impaired Coupling to Multiple Effectors The polymorphism (denoted Del322-325) is because of an in-frame 12-nucleic acid deletion encoding a receptor lacking Gly-Ala-Gly-Pro in ...
This in-frame deletion within the BAR domain could be responsible for the hippocampal alterations that were not detected in patients with a complete loss of OPHN1. PATIENTS AND METHODS The propositus (III.2; Figure 1) was referred to the Human Genetics Service at the State University of Rio...
This deletion, which results in a frameshift and a premature stop codon, occurs on the same haplotype background, suggesting that a single mutational event is involved in the four families. The other patients showed either deletions of the SMN gene (49/54) or a gene conversion event changing...
A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations.doi:10.1038/ejhg.2013.216Oligophrenin-1 (OPHN1) is one of at least seven genes located on chromosome X that take part in Rho GTPase-dependent signaling pathways ...
The identified MLH1 mutant allele emerged from an interstitial deletion on chromosome 3p21.3, leading to an in-frame fusion of MLH1 (exons 1-11) with ITGA9 (integrin alpha 9; exons 17-28). The deleted area has a size of about 400 kb; codes for LRRFIP2 (leucine-rich repeat in flightle...
Although the electromyogram was normal, a few scattered necrotic fibres were seen in the muscle biopsy. DNA and dystrophin studies revealed an in-frame deletion in the 5′ region of the dystrophin gene and an abnormal form of the protein product, consistent with a diagnosis of dystrophinopathy....
France KeyWords Tuberous sclerosis Bourneville's disease TSC2 Tuberin In-frame deletion Splice site mutation Tumor suppressor gene DGGE SSCP 16p13.3 Deletion of 11 Amino Acids in Tuberin Associated with Severe Tuberous Sclerosis Phenotypes: Evidence for a New Essential Domain in the First Third of ...
We report here the largest known de novo and out of frame deletion in the fibrillin-1 gene in a patient fulfilling the diagnostic criteria of Marfan syndrome. We identified the deletion breakpoints at the genomic and transcript levels and studied the expression of the mutated allele at the ...