Direct detection of point mutations by mismatch analysis: application to haemophilia B.
about
Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy populationDiverse mutations in patients with Menkes disease often lead to exon skippingNovel mutations and polymorphisms in the Fanconi anemia group C geneA new strategy for the genetic counselling of diseases of marked mutational heterogeneity: haemophilia B as a modelRestriction fragment length polymorphisms associated with the factor VIII and factor IX genes in Polynesians.p53 mutations in colorectal cancerHaemophilia A and haemophilia B: molecular insightsPoint mutations within and outside the homeodomain identify sequences required for proboscipedia homeotic function in Drosophila.A chemical mismatch cleavage method useful for the detection of point mutations in the p53 gene in lung cancer.Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B.DNA variation in a 5-Mb region of the X chromosome and estimates of sex-specific/type-specific mutation rates.Haemophilia B (sixth edition): a database of point mutations and short additions and deletionsHaemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994.Haemophilia B: database of point mutations and short additions and deletions--fourth edition, 1993Efficient detection of point mutations on color-coded strands of target DNA.Two amino acid substitutions in apolipoprotein B are in complete allelic association with the antigen group (x/y) polymorphism: evidence for little recombination in the 3' end of the human gene.Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples.Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes.Detection of novel genetic markers by mismatch analysis.G to A polymorphism in the second exon of the BCL2 gene.The incidence and distribution of CpG----TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspotsHaemophilia B: database of point mutations and short additions and deletionsHaemophilia B: database of point mutations and short additions and deletions--second edition.Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.Detection of single base mismatches of thymine and cytosine residues by potassium permanganate and hydroxylamine in the presence of tetralkylammonium salts.Clinical utility gene card for: haemophilia B.Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992.Immunoassays for carbodiimide modified DNA-detection of unpairing transitions in supercoiled ColE1 DNA.Mutations in p53 do not account for heritable breast cancer: a study in five affected families.Hydrophobicity variations along the surface of the coiled-coil rod may mediate striated muscle myosin assembly in Caenorhabditis elegans.Characterization of alpha1(IV) collagen mutations in Caenorhabditis elegans and the effects of alpha1 and alpha2(IV) mutations on type IV collagen distribution.Vinculin is essential for muscle function in the nematode.Point mutations in the dystrophin gene.Molecular epidemiology of Pseudomonas cepacia determined by polymerase chain reaction ribotypingCystic fibrosis. 3. Cloning the cystic fibrosis gene: implications for diagnosis and treatmentSomatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes.Mutations in the alpha 2(IV) basement membrane collagen gene of Caenorhabditis elegans produce phenotypes of differing severities.Levels of homeotic protein function can determine developmental identity: evidence from low-level expression of the Drosophila homeotic gene proboscipedia under Hsp70 control.The effect of replication errors on the mismatch analysis of PCR-amplified DNA.
P2860
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P2860
Direct detection of point mutations by mismatch analysis: application to haemophilia B.
description
1989 nî lūn-bûn
@nan
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
1989年论文
@zh
1989年论文
@zh-cn
name
Direct detection of point mutations by mismatch analysis: application to haemophilia B.
@en
type
label
Direct detection of point mutations by mismatch analysis: application to haemophilia B.
@en
prefLabel
Direct detection of point mutations by mismatch analysis: application to haemophilia B.
@en
P2093
P2860
P356
P1476
Direct detection of point mutations by mismatch analysis: application to haemophilia B.
@en
P2093
Bentley DR
Giannelli F
Montandon AJ
P2860
P304
P356
10.1093/NAR/17.9.3347
P577
1989-05-01T00:00:00Z