The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions
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Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutationsEXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41Pax6 3' deletion results in aniridia, autism and mental retardationGenetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locusMutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversalAbsence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndromeMutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse originsThe mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codonJewish and Middle Eastern non-Jewish populations share a common pool of Y-chromosome biallelic haplotypesIs Single-Strand Conformation Polymorphism Analysis of the Full 5' Untranslated Region an Adequate Approach To Study Hepatitis C Virus Quasispecies Distribution?Detection of mutations in the DNA polymerase delta gene of human sporadic colorectal cancers and colon cancer cell linesMethylation-sensitive, single-strand conformation analysis (MS-SSCA): A rapid method to screen for and analyze methylationHuman nuclear transcription factor gene CREM: genomic organization, mutation screening, and association analysis in panic disorderPhenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patientsIdentification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patientsSingle missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2Bp53 Gene mutations in superficial bladder cancer.Frequent NF2 gene transcript mutations in sporadic meningiomas and vestibular schwannomas.SSA/RO52gene and expressed sequence tags in an 85 kb region of chromosome segment 11p15.5.Linkage disequilibrium analysis of case-control data: an application to generalized aggressive periodontitis.Combined SSCP/duplex analysis by capillary electrophoresis for more efficient mutation detection.Ribotyping of rhizobia nodulating Acacia mangium and Paraserianthes falcataria from different geographical areas in Indonesia using PCR-RFLP-SSCP (PRS) and sequencing.Application of single-strand conformation polymorphism to the study of bovine viral diarrhea virus isolates.Spatial heterogeneity of crenarchaeal assemblages within mesophilic soil ecosystems as revealed by PCR-single-stranded conformation polymorphism profiling.Comparison of near-infrared and laser-induced breakdown spectroscopy for determination of magnesium stearate in pharmaceutical powders and solid dosage forms.Genetic aspects of familial osteoarthritisHLA class I associations of ankylosing spondylitis in the white population in the United Kingdom.Single-strand conformation polymorphism and heteroduplex analysis for gel-based mutation detection.Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects.Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.Detection of three closely located single nucleotide polymorphisms in the EAAT2 promoter: comparison of single-strand conformational polymorphism (SSCP), pyrosequencing and Sanger sequencing.Association between SSCP haplotypes at the bovine growth hormone gene and milk protein percentage.Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.Association of TTR polymorphisms with hippocampal atrophy in Alzheimer disease families.The genetic epidemiology of early-onset epithelial ovarian cancer: a population-based study.Gene therapy in glaucoma-3: Therapeutic approaches.Mutational analysis of the human SLC26A8 gene: exclusion as a candidate for male infertility due to primary spermatogenic failure.Altered expression of KCNK9 in colorectal cancers.
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P2860
The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions
description
article
@en
im Mai 1993 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в травні 1993
@uk
name
The Sensitivity of Single-Stra ...... n of Single Base Substitutions
@en
The Sensitivity of Single-Stra ...... n of Single Base Substitutions
@nl
type
label
The Sensitivity of Single-Stra ...... n of Single Base Substitutions
@en
The Sensitivity of Single-Stra ...... n of Single Base Substitutions
@nl
prefLabel
The Sensitivity of Single-Stra ...... n of Single Base Substitutions
@en
The Sensitivity of Single-Stra ...... n of Single Base Substitutions
@nl
P2093
P356
P1433
P1476
The Sensitivity of Single-Stra ...... n of Single Base Substitutions
@en
P2093
Anne E. Kwitek
Dirk W. Sandstrom
John S. Beck
Val C. Sheffield
P304
P356
10.1006/GENO.1993.1193
P577
1993-05-01T00:00:00Z