(Q41015470)

25 September 2017

1 reference

title

Applications of heteroduplex analysis for mutation detection in disease genes (English)

1 reference

25 September 2017

2

1 reference

25 September 2017

Glavac D

1

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25 September 2017

publication date

1 January 1995

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25 September 2017

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25 September 2017

volume

6

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25 September 2017

issue

4

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25 September 2017

page(s)

281-287

1 reference

Analysis of mutations at the neurofibromatosis 1 (NF1) locus

25 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

The contrasting structures of mismatched DNA sequences containing looped-out bases (bulges) and multiple mismatches (bubbles).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Germline mutations in the neurofibromatosis type 2 tumour suppressor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

The use of DNA heteroduplex patterns to map recombination within the HLA class II region.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Identification of three rare frameshift mutations in exon 13 of the cystic fibrosis gene: 1918delGC, 2118del4 and 2372del8

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Identification of a new frameshift mutation and a duplication polymorphism in the CFTR gene in the Algerian population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Genetic relationships determined by a DNA heteroduplex mobility assay: analysis of HIV-1 env genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Two-temperature PCR and heteroduplex detection: application to rapid cystic fibrosis screening

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Single-step screening method for the most common mutations in familial adenomatous polyposis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Detection of single-base mutations by reaction of DNA heteroduplexes with a water-soluble carbodiimide followed by primer extension: application to products from the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

A simple method for identification of point mutations using denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Four novel germ-line mutations in the APC gene detected by heteroduplex analysis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Ten base pair duplication in exon 38 of the NF1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

A novel deletion mutation of lactate dehydrogenase A(M) gene in fifth family with the enzyme deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

A somatic mutation in the adenomatous polyposis coli (APC) gene in peripheral blood cells--implications for predictive diagnosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Detection of mutations by cleavage of DNA heteroduplexes with bacteriophage resolvases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Heterozygous 'null allele' mutation in the human peripherin/RDS gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

In frame deletion (ΔF311) within a short trinucleotide repeat of the first transmembrane region of the cystic fibrosis gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Temporal fluctuations in HIV quasispecies in vivo are not reflected by sequential HIV isolations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Eleven novel germline mutations in the adenomatous polyposis coli (APC) gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Hydrolink gels: a rapid and simple approach to the detection of DNA mutations in thromboembolic disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Exon 44 nonsense mutation in two-Duchenne muscular dystrophy brothers detected by heteroduplex analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Detection of an exon 53 polymorphism in the dystrophin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

A 3' consensus splice mutation in the human dystrophin gene detected by a screening for intra-exonic deletions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Split genes and RNA splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Four dinucleotide repeat polymorphisms on human chromosome 16 at D16S289, D16S318, D16S319 and D16S320

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Subgrouping of DR4 alleles by DNA heteroduplex analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Detection of complex alleles by direct analysis of DNA heteroduplexes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

A new approach to HLA-DPB1 typing combining DNA heteroduplex analysis with allele-specific amplification and enzyme restriction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Improved detection of mutations in the p53 gene in human tumors as single-stranded conformation polymorphs and double-stranded heteroduplex DNA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

One base deletion in the cysteine-rich domain of the dystrophin gene in Duchenne muscular dystrophy patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Single base mutations can be unequivocally and rapidly detected by analysis of DNA heteroduplexes, obtained with deletion-mutant instead of wild-type DNA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

A frame-shift mutation in the cystic fibrosis gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Detecting single base substitutions as heteroduplex polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Diagnosis of sickle-cell disease with a universal heteroduplex generator

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Optimisation and properties of a UHG for genotyping of hemoglobins S and C

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Rapid classification of phenylketonuria genotypes by analysis of heteroduplexes generated by PCR-amplifiable synthetic DNA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Screening for mutations by enzyme mismatch cleavage with T4 endonuclease VII.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Exploiting structural differences among heteroduplex molecules to simplify genotyping the DQA1 and DQB1 alleles in human lymphocyte typing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060402

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380060402

1 reference

25 September 2017

1 reference