Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes
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Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predispositionSplicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypesAutosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-BJagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosisPrecocious sister chromatid separation (PSCS) in Cornelia de Lange syndromeCloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosaMutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostosesLoss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndromeMutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosisA spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticumDigenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.Marshall syndrome associated with a splicing defect at the COL11A1 locus.COL9A3: A third locus for multiple epiphyseal dysplasia.NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypesEpidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypesCompound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentitionThree novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosaEpidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4)Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporterA compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiencyDetection of 100% of mutations in 124 individuals using a standard UV/Vis microplate reader: a novel concept for mutation scanningExpression analysis of candidate breast tumour suppressor genes on chromosome 16qThe Canadian "National Program for hemophilia mutation testing" database: a ten-year reviewComplete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variantsMutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyriaWidely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesisGenomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) ConsortiumEpidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlationsReduced expression of the epithelial adhesion ligand laminin 5 in the skin causes intradermal tissue separationA recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral alleleGenetic background of HSH in three Polish families and a patient with an X;9 translocationE210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosaHeterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndromeAtypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma)Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage ConsortiumPCR identification of durum wheat BAC clones containing genes coding for carotenoid biosynthesis enzymes and their chromosome localization.Combined SSCP/duplex analysis by capillary electrophoresis for more efficient mutation detection.Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets.
P2860
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P2860
Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes
description
1993 nî lūn-bûn
@nan
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
1993年论文
@zh
1993年论文
@zh-cn
name
Conformation-sensitive gel ele ...... ed bends in DNA heteroduplexes
@ast
Conformation-sensitive gel ele ...... ed bends in DNA heteroduplexes
@en
type
label
Conformation-sensitive gel ele ...... ed bends in DNA heteroduplexes
@ast
Conformation-sensitive gel ele ...... ed bends in DNA heteroduplexes
@en
prefLabel
Conformation-sensitive gel ele ...... ed bends in DNA heteroduplexes
@ast
Conformation-sensitive gel ele ...... ed bends in DNA heteroduplexes
@en
P2093
P2860
P356
P1476
Conformation-sensitive gel ele ...... ed bends in DNA heteroduplexes
@en
P2093
P2860
P304
10325-10329
P356
10.1073/PNAS.90.21.10325
P407
P577
1993-11-01T00:00:00Z