Keywords: جهش Splicing; Parkinson's disease; GBA; Parkinsonism; Association analysis; Splicing mutation; Functional characterization;
مقالات ISI جهش Splicing (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
A novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family
Keywords: جهش Splicing; Galactosemia; Inborn error of galactose metabolism; Splicing mutation; HRM; In silico study; Ecuadorian GALT mutation;
Identification of a novel splicing mutation within SLC17A8 in a Korean family with hearing loss by whole-exome sequencing
Keywords: جهش Splicing; ADNSHL; autosomal dominant non-syndromic hearing loss; CRISPR; clustered regularly interspaced short palindromic repeats; CV; consensus values; DNA; deoxyribonucleic acid; HHL; hereditary hearing loss; HL; hearing loss; HSF; Human Splicing Finder; IHCs; i
Case reportBecker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript
Keywords: جهش Splicing; Dystrophinopathy; Dystrophin; Duchenne muscular dystrophy; Becker muscular dystrophy; Splicing mutation; Dystrophin amount;
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only
Keywords: جهش Splicing; RNA; NF1; Splicing mutation; Deep intronic; Legius; SPRED1; Café au lait
Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations
Keywords: جهش Splicing; Cystic fibrosis; CFTR; Splicing mutation; Alternative splicing; In silico predictions
Characterization and mRNA expression analysis of a novel ARG1 splicing mutation causing hyperargininemia
Keywords: جهش Splicing; Hyperargininemia; ARG1; Splicing mutation; Urea cycle disorders;
A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree
Keywords: جهش Splicing; SEDL gene; Splicing mutation; Spondyloepiphyseal dysplasia tarda (SEDT); X-linked; Splicing mechanism;
Detection of a novel splicing mutation causing analbuminemia in a Libyan family
Keywords: جهش Splicing; Analbuminemia; Genetic disorder; Splicing mutation; DHPLC; DNA sequencing
Identification and functional characterization of KCNQ1 mutations around the exon 7–intron 7 junction affecting the splicing process
Keywords: جهش Splicing; Long QT syndrome; Ion channel; Splicing mutation
A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients
Keywords: جهش Splicing; Xeroderma pigmentosum; Black skin; XPC; Splicing mutation; Skin cancer; Ocular injuries;
Aberrant RNA splicing in RHD 7-9 exons of DEL individuals in Taiwan: A mechanism study
Keywords: جهش Splicing; RHD gene; Single nucleotide polymorphism; DEL; Splicing mutation
The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682Â +Â 1GÂ >Â A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa
Keywords: جهش Splicing; Dystrophic epidermolysis bullosa; COL7A1 gene; Type VII collagen; Splicing mutation; Cartilage matrix protein subdomain;
A new splicing site mutation of the ABCB4 gene in intrahepatic cholestasis of pregnancy with raised serum γ-GT
Keywords: جهش Splicing; ABCB4; γ-GT; Intrahepatic cholestasis of pregnancy; MDR3; mRNA analysis; Splicing mutation
Aromatic l-amino acid decarboxylase deficiency in Taiwan
Keywords: جهش Splicing; Aromatic l-amino acid decarboxylase deficiency; Splicing mutation; Founder effect; Taiwan
Two sporadic spinal neurofibromatosis patients with malignant peripheral nerve sheath tumour
Keywords: جهش Splicing; Neurofibromatosis type 1; Spinal neurofibroma; Malignant peripheral nerve sheath tumour; Splicing mutation; LOH; TP53
Identification and functional characterization of a novel splicing mutation in RP gene PRPF31
Keywords: جهش Splicing; Autosomal dominant retinitis pigmentosa; PRPF31; Splicing mutation; Genetics; Linkage;
A splice site mutation in hERG leads to cryptic splicing in human long QT syndrome
Keywords: جهش Splicing; Long QT syndrome; Splicing mutation; Arrhythmia; Sudden death; Myocytes
A novel splicing mutation of the ATRX gene in ATR-X syndrome
Keywords: جهش Splicing; ATR-X; Splicing mutation
Clinical and mutational characterization of three patients with multiple sulfatase deficiency: Report of a new splicing mutation
Keywords: جهش Splicing; Multiple sulfatase deficiency; SUMF1 gene; Minigene analysis; Splicing mutation;