Genetic recombination events which position the Friedreich ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q. (Q35194279)

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12 October 2019

title

Genetic recombination events which position the Friedreich ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q (English)

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12 October 2019

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5

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12 October 2019

author name string

S Chamberlain

1

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12 October 2019

M Farrall

2

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12 October 2019

J Shaw

3

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12 October 2019

D Wilkes

4

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12 October 2019

R Hillerman

6

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12 October 2019

K Doudney

7

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12 October 2019

A E Harding

8

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12 October 2019

R Williamson

9

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12 October 2019

G Sirugo

10

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12 October 2019

publication date

1 January 1993

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8434613%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

12 October 2019

language of work or name

English

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published in

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12 October 2019

volume

52

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12 October 2019

issue

1

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12 October 2019

page(s)

99-109

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Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

12 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682111

Slipped-strand mispairing: a major mechanism for DNA sequence evolution

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682111

Molecular characterization of a spontaneously generated new allele at a VNTR locus: no exchange of flanking DNA sequence

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682111

Genetic homogeneity at the Friedreich ataxia locus on chromosome 9

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682111

Isolation and mapping of a polymorphic DNA sequence pMCT112 on chromosome 9q (D9S15).

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682111

A human single-copy DNA probe (DR 47) detects a Taq I RFLP on chromosome 9 (D9S5).

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682111

Restriction fragment length polymorphism of human aldehyde dehydrogenase 1 and aldehyde dehydrogenase 2 loci

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682111

A new accI polymorphism for pMCT112 [D9S15]

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682111

Friedreich ataxia in Italian families: genetic homogeneity and linkage disequilibrium with the marker loci D9S5 and D9S15.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682111

Identification of a hypervariable microsatellite polymorphism within D9S15 tightly linked to Friedrich's ataxia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682111

The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682111

Regional localisation of the Friedreich ataxia locus to human chromosome 9q13----q21.1.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682111

Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682111

Physical mapping of two loci (D9S5 and D9S15) tightly linked to Friedreich ataxia locus (FRDA) and identification of nearby CpG islands by pulse-field gel electrophoresis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682111

A 530kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatellite

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682111

Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682111

Clinical Description and Roentgenologic Evaluation of Patients with Friedreich's Ataxia

13 July 2018

1 reference

12 December 2020

The heart disease of Friedreich's ataxia: a clinical and electrocardiographic study of 115 patients, with an analysis of serial electrocardiographic changes in 30 cases

1 reference

12 December 2020

Mapping of mutation causing Friedreich's ataxia to human chromosome 9

1 reference

12 December 2020

Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker

1 reference

12 December 2020

"Acadian" and "classical" forms of Friedreich ataxia are most probably caused by mutations at the same locus

1 reference

12 December 2020

Prenatal diagnosis of friedreich ataxia

1 reference

12 December 2020

Prenatal diagnosis of Friedreich ataxia

1 reference

12 December 2020

Identification of CpG islands in a physical map encompassing the Friedreich's ataxia locus

1 reference

12 December 2020

Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8434613%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

PubMed publication ID

8434613

1 reference