(Q74329673)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11493226%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

Recombination breakpoints in the Charcot-Marie-Tooth 1A repeat sequence in Norwegian families (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11493226%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

2

C A Vedeler

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11493226%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

author name string

N K Aarskog

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11493226%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

publication date

1 August 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11493226%20AND%20SRC:MED&resulttype=core&format=json

Acta Neurologica Scandinavica

10 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11493226%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

volume

104

1 reference

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10 November 2019

issue

2

1 reference

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10 November 2019

page(s)

97-100

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11493226%20AND%20SRC:MED&resulttype=core&format=json

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

10 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2001.104002097.X

7 January 2021

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2001.104002097.X

7 January 2021

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2001.104002097.X

7 January 2021

The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2001.104002097.X

7 January 2021

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2001.104002097.X

7 January 2021

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2001.104002097.X

7 January 2021

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2001.104002097.X

7 January 2021

Correlation between PMP-22 messenger mRNA expression and phenotype in hereditary neuropathy with liability to pressure palsies

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2001.104002097.X

7 January 2021

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2001.104002097.X

7 January 2021

The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2001.104002097.X

7 January 2021

Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2001.104002097.X

7 January 2021

Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2001.104002097.X

7 January 2021

Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2001.104002097.X

7 January 2021

Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2001.104002097.X

7 January 2021

Polymorphisms in the PMP-22 gene region (17p11.2-12) are crucial for simplified diagnosis of duplications/deletions.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2001.104002097.X

7 January 2021

Clustering of CMT1A duplication breakpoints in a 700 bp interval of the CMT1A-REP repeat

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2001.104002097.X

7 January 2021

Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liabilit

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0404.2001.104002097.X

7 January 2021

10.1034/J.1600-0404.2001.104002097.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11493226%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference