15 天前 - … mutation rate compared to unique sequences in the genome and can be located in
disease… VNTRs prevents unambiguous alignment of short reads and thus variant detection [3…

20 天前 - … Here, we propose a case of paternal germline mutation causing CF. The subject
also had … Also, short tandem repeat markers revealed the de novo nature of the mutation. The …

34 天前 - … , such as germline mutations, short tandem repeats, single-… of genetic mutations
related to widely known diseases: - … the level of genes, not specific mutation details (eg, Loci). * …

43 天前 - … organ function, and documented FLT3 mutation status. Key exclusion criteria include
known CNS disease, clinically significant cardiovascular disease, and WBC >50,000/µL (…

49 天前 - … autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin
1 … using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease…

62 天前 - … CAG tandem repeat in the first exon in androgen receptor gene (AR) causes Spinal
and Bulbar Muscular Atrophy (SBMA), a progressive neurodegenerative disease … mutants in …

66 天前 - … This disease is caused by mutations in the AR gene … Mutation of the AR gene
causes complete or partial loss of … short tandem repeats (STR) to provide diagnostic results. …

69 天前 - … sixty human diseases have been linked to the mutation-length expansion of short
tandem repeat … First, tandem repeat DNA sequences slip during PCR amplification resulting in …

70 天前 - … More than 60 human disorders have been linked to unstable expansion of short
tandem repeat (STR) tracts. STR length and the extent of DNA methylation is linked to disease …

71 天前 - … The occurrence rate of the disease in Vietnam varies up to up to 51.5%, with high
rate of mutation carriers, of couples consisting of two carriers at risk of bearing a child with …