Keywords: جهش سایت Splice; Arrhythmogenic right ventricular dysplasia; Plakophilin 2 gene; Splice site mutation; Ventricular tachycardia;
مقالات ISI جهش سایت Splice (ترجمه نشده)
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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.
Keywords: جهش سایت Splice; Cockayne Syndrome; CSB; ERCC6; Splice site mutation; Metabolomics; Premature aging;
Keywords: جهش سایت Splice; Glutaric aciduria type I; GCDH; Splice site mutation; Newborn screening
Whole exome sequencing identifies a novel mutation (c.333â¯+â¯2Tâ¯>â¯C) of TNNI3K in a Chinese family with dilated cardiomyopathy and cardiac conduction disease
Keywords: جهش سایت Splice; DCM; Dilated Cardiomyopathy; SCD; Sudden cardiac death; CCD; Cardiac conduction disease; TNNI3K; TNNI3 Interacting Kinase; cTnI; cardiac tropnin I; ECG; 12-lead echocardiogram; WES; Whole exome sequencing; PCR; Polymerase chain reaction; LV; Left ventricu
First case of genetically confirmed CLN3 disease in Chinese with cDNA sequencing revealing pathogenicity of a novel splice site variant
Keywords: جهش سایت Splice; CLN3 disease; Neuronal ceroid lipofuscinosis; Electron microscopy; Splice site mutation; cDNA sequencing;
IPEX due to an exon 7 skipping FOXP3 mutation with autoimmune diabetes mellitus cured by selective TReg cell engraftment
Keywords: جهش سایت Splice; IPEX; FOXP3; Splice site mutation; TReg; HSCT; Autoimmune diabetes mellitus;
Experimental assessment of novel PAX6 splicing mutations in two Chinese families with aniridia
Keywords: جهش سایت Splice; PAX6; paired box gene 6; bp; base pair(s); del; delete; ins; insert; WAGR; Wilms tumor, aniridia, genitourinary anomalies and mental retardation; PD; paired domain; HD; homeodomain; PST; proline/serine/threonine-rich; PCR; polymerase chain reaction; NCBI;
Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome
Keywords: جهش سایت Splice; Amelogenesis imperfecta; CNNM4; Cone-rod dystrophy; Jalili syndrome; Splice site mutation;
Identification of a novel loss-of-function C9orf72 splice site mutation in a patient with amyotrophic lateral sclerosis
Keywords: جهش سایت Splice; Amyotrophic lateral sclerosis; C9orf72; GGGGCC hexanucleotide repeat expansion; Splice site mutation; Loss-of-function;
Japanese recurrent mutation c.6216Â +Â 5GÂ >Â T in COL7A1 leads to a mild phenotype of dystrophic epidermolysis bullosa
Keywords: جهش سایت Splice; Recurrent mutation; Splice site mutation; Type VII collagen; Skin blistering; Genodermatosis;
Response to Crizotinib in a Patient With Lung Adenocarcinoma Harboring a MET Splice Site Mutation
Keywords: جهش سایت Splice; Crizotinib; Lung adenocarcinoma; MET; Splice site mutation;
Splicing abnormality of integrin β4 gene (ITGB4) due to nucleotide substitutions far from splice site underlies pyloric atresia-junctional epidermolysis bullosa syndrome
Keywords: جهش سایت Splice; Genodermatosis; Blister; Branch-point mutation; Splice site mutation; RT-PCR
A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology
Keywords: جهش سایت Splice; X-linked; Muscular dystrophy; Splice site mutation; Linkage analysis; Exome sequencingFHL1, four and a half LIM domain 1; EDMD, Emery–Dreifuss muscular dystrophy
A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly
Keywords: جهش سایت Splice; Intellectual disability; Mental retardation; Microcephaly; TRAPPC9; Homozygosity mapping; Splice site mutation; Exon skipping
Gastric cancer cell line Hs746T harbors a splice site mutation of c-Met causing juxtamembrane domain deletion
Keywords: جهش سایت Splice; Receptor tyrosine kinase; c-Met; Gastric cancer; Gene amplification; Splice site mutation
Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma
Keywords: جهش سایت Splice; SPPK, striate palmoplantar keratoderma; PTC, premature termination codonDesmoglein 1; Desmosome; Striate palmoplantar keratoderma; Splice site mutation
A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II
Keywords: جهش سایت Splice; Dentinogenesis imperfecta type II; Dentin sialophosphoprotein gene; Splice site mutation
Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene
Keywords: جهش سایت Splice; DSG1, human desmoglein 1 gene/protein; PPKS, striate palmoplantar keratoderma; DP, desmoplakin gene/protein; K1, keratin 1 gene/proteinDesmoglein 1; Cell adhesion; Palmoplantar keratoderma; Desmosome; Splice site mutation
Identification of a unique splice site variant in SLC39A4 in bovine hereditary zinc deficiency, lethal trait A46: An animal model of acrodermatitis enteropathica
Keywords: جهش سایت Splice; Zinc transport; Comparative genetics; Bovine genetics; Human genetics; Splice site mutation; Exon skipping; Mutation testing; Solute carrier; Acrodermatitis enteropathica; Lethal trait A46; Bovine hereditary zinc deficiency
Functional analysis of a new splice site mutation, c.605-3CÂ >Â A, in the cystinuria gene SLC7A9 leading to exon skipping
Keywords: جهش سایت Splice; Cystinuria; SLC7A9; Splice site mutation; Exon skipping;
A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene
Keywords: جهش سایت Splice; Craniotubular hyperostosis; Sclerostin; Splice site mutation; Osteopathia striata;
A donor splice site mutation in intron 1 of CYBA, leading to chronic granulomatous disease
Keywords: جهش سایت Splice; Chronic granulomatous disease (CGD); p22-phox deficiency; CYBA; Splice site mutation; Cryptic splice site; A220 CGD;
Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene
Keywords: جهش سایت Splice; Metabolic myopathy; Myoadenylate deaminase deficiency; Splice site mutation; Alternative splicing; Compound heterozygosity;
A novel splice site mutation of the arginine vasopressin-neurophysin II gene identified in a kindred with autosomal dominant familial neurohypophyseal diabetes insipidus
Keywords: جهش سایت Splice; Neurohypophyseal diabetes insipidus; AVP-NP II gene; Splice site mutation; Autosomal dominant; Intron;
Detection of somatic TP53 splice site mutations in diffuse astrocytomas
Keywords: جهش سایت Splice; Diffuse astrocytoma; TP53; Splice site mutation; PCR-SSCP;