Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome.
about
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapyEnhancer complexes located downstream of both human immunoglobulin Calpha genesNucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism.Germline and somatic mosaicism in a female carrier of Hunter diseaseStructural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.Inversion variants in the human genome: role in disease and genome architectureTargeted inversion and reversion of the blood coagulation factor 8 gene in human iPS cells using TALENsAnalysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing.Genome destabilization by homologous recombination in the germ lineGenome-wide association tests of inversions with application to psoriasis.Accommodating chromosome inversions in linkage analysis.Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type IIMolecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).The genetics of microdeletion and microduplication syndromes: an update.Functional Impact and Evolution of a Novel Human Polymorphic Inversion That Disrupts a Gene and Creates a Fusion Transcript.Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome.The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplicationsMucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.Human inversions and their functional consequencesMouse chromosome engineering for modeling human disease.Inverted low-copy repeats and genome instability--a genome-wide analysisHeterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation.Characterizing polymorphic inversions in human genomes by single-cell sequencing.Parent of origin effects.Whole-genome sequencing in personalized therapeutics.Child development and structural variation in the human genome.CRISPR/Cas9-mediated correction of human genetic disease.SRinversion: a tool for detecting short inversions by splitting and re-aligning poorly mapped and unmapped sequencing reads.Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.Molecular analysis of the novel IDS allele in a Thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decay.Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture.Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation.Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations.KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses.Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome
P2860
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P2860
Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome.
description
1995 nî lūn-bûn
@nan
1995 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
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
name
Inversion of the IDS gene resu ...... cause of the Hunter syndrome.
@ast
Inversion of the IDS gene resu ...... cause of the Hunter syndrome.
@en
Inversion of the IDS gene resu ...... cause of the Hunter syndrome.
@nl
type
label
Inversion of the IDS gene resu ...... cause of the Hunter syndrome.
@ast
Inversion of the IDS gene resu ...... cause of the Hunter syndrome.
@en
Inversion of the IDS gene resu ...... cause of the Hunter syndrome.
@nl
prefLabel
Inversion of the IDS gene resu ...... cause of the Hunter syndrome.
@ast
Inversion of the IDS gene resu ...... cause of the Hunter syndrome.
@en
Inversion of the IDS gene resu ...... cause of the Hunter syndrome.
@nl
P2093
P356
P1476
Inversion of the IDS gene resu ...... cause of the Hunter syndrome.
@en
P2093
Bondeson ML
Carlberg BM
Kleijer WJ
Malmgren H
Pettersson U
Tönnesen T
P304
P356
10.1093/HMG/4.4.615
P577
1995-04-01T00:00:00Z