A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. (Q48066076)

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15 October 2019

title

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

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15 October 2019

1

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15 October 2019

author name string

Murakami T

2

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15 October 2019

Koeuth T

3

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15 October 2019

Pentao L

4

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15 October 2019

Muzny DM

5

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15 October 2019

Gibbs RA

6

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15 October 2019

Lupski JR

7

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15 October 2019

language of work or name

English

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publication date

1 March 1996

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15 October 2019

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15 October 2019

volume

12

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15 October 2019

page(s)

288-297

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15 October 2019

issue

3

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https://scigraph.springernature.com/pub.10.1038/ng0396-288

15 October 2019

exact match

0 references

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Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements

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

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Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

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Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group

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Screening of dominantly inherited Charcot-Marie-Tooth neuropathies

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Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1

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

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DNA deletion associated with hereditary neuropathy with liability to pressure palsies

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Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.

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The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A

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

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The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A

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Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

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Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases. The French CMT Collaborative Research Group

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Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP)

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7 January 2021

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Identifiers

DOI

10.1038/NG0396-288

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8589720%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

1 reference