A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.
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Functional studies on the ATM intronic splicing processing elementGene inactivation and its implications for annotation in the era of personal genomicsIdentification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.The L441P mutation of cystic fibrosis transmembrane conductance regulator and its molecular pathogenic mechanisms in a Korean patient with cystic fibrosis.Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practicePseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivityThe molecular basis of partial penetrance of splicing mutations in cystic fibrosis.The spectrum of RB1 germ-line mutations in hereditary retinoblastomaMutation deep within an intron of MSH2 causes Lynch syndrome.IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD.Defective splicing, disease and therapy: searching for master checkpoints in exon definition.A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetranceDefining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.What can the CF registry tell us about rare CFTR-mutations? A Belgian study.Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders.RNA structure is a key regulatory element in pathological ATM and CFTR pseudoexon inclusion events.Cas9/gRNA targeted excision of cystic fibrosis-causing deep-intronic splicing mutations restores normal splicing of CFTR mRNA.An Alu-derived intronic splicing enhancer facilitates intronic processing and modulates aberrant splicing in ATM.Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.Phenotypic Characterization of the c.1679+1643G>T (1811+1643G>T) Mutation in Hispanic Cystic Fibrosis Patients
P2860
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P2860
A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
A novel donor splice site in i ...... ciation with severe phenotype.
@en
type
label
A novel donor splice site in i ...... ciation with severe phenotype.
@en
prefLabel
A novel donor splice site in i ...... ciation with severe phenotype.
@en
P2093
P2860
P50
P1476
A novel donor splice site in i ...... ociation with severe phenotype
@en
P2093
P2860
P304
P407
P577
1995-03-01T00:00:00Z