Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique (Q34215764)

31 July 2017

Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique (English)

1 reference

31 July 2017

Peter J Scambler

3

0 references

author name string

Bethan E Hoskins

series ordinal

1

1 reference

PubMed ID

12872256

31 July 2017

Anita Thorn

series ordinal

2

1 reference

PubMed ID

12872256

31 July 2017

Philip L Beales

series ordinal

4

1 reference

31 July 2017

1 August 2003

1 reference

31 July 2017

1 reference

31 July 2017

22

1 reference

31 July 2017

2

1 reference

31 July 2017

151-157

1 reference

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

31 July 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10241

7 January 2021

Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10241

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10241

7 January 2021

Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10241

7 January 2021

Mutation detection by denaturing gradient gel electrophoresis (DGGE).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10241

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.10241

7 January 2021

High throughput fluorescence-based conformation-sensitive gel electrophoresis (F-CSGE) identifies six unique BRCA2 mutations and an overall low incidence of BRCA2 mutations in high-risk BRCA1-negative breast cancer families.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10241

7 January 2021

The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10241

7 January 2021

Use of a DNA toolbox for the characterization of mutation scanning methods. I: construction of the toolbox and evaluation of heteroduplex analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10241

7 January 2021

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10241

7 January 2021

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10241

7 January 2021

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10241

7 January 2021

Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10241

7 January 2021

Ligation-based DNA diagnostics.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10241

7 January 2021

Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10241

7 January 2021

Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10241

7 January 2021

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10241

7 January 2021

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10241

7 January 2021

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10241

7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10241

7 January 2021

Rapid detection of DNA sequence variants by conformation-sensitive capillary electrophoresis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10241

7 January 2021

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10241

7 January 2021

Mutations in MKKS cause Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10241

7 January 2021

The use of chemical reagents in the detection of DNA mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10241

7 January 2021

A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10241

7 January 2021

Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10241

7 January 2021

A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10241

7 January 2021

Identifiers

DOI

10.1002/HUMU.10241

1 reference

31 July 2017

1 reference

PubMed ID

12872256