Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit (Q67482959)

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13 September 2019

title

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

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13 September 2019

4

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13 September 2019

author name string

Pentao L

1

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13 September 2019

Wise CA

2

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13 September 2019

Chinault AC

3

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13 September 2019

Lupski JR

5

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13 September 2019

publication date

1 December 1992

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13 September 2019

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13 September 2019

volume

2

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13 September 2019

page(s)

292-300

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13 September 2019

issue

4

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https://scigraph.springernature.com/pub.10.1038/ng1292-292

13 September 2019

exact match

0 references

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Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A

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

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

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A genetic map of human chromosome 17p

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Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families

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7 January 2021

Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease type 1)

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7 January 2021

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

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De-novo mutation in hereditary motor and sensory neuropathy type I.

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

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Trembler mouse carries a point mutation in a myelin gene

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A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse

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Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)

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Hereditary hypertrophic neuropathy in the trembler mouse. Part 1. Histopathological studies: light microscopy

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Hereditary hypertrophic neuropathy in the trembler mouse. Part 2. Histopathological studies: electron microscopy

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7 January 2021

Hypertrophic Charcot-Marie-Tooth disease. Light and electron microscope studies of the sural nerve

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7 January 2021

Refractory period, conduction of trains of impulses, and effect of temperature on conduction in chronic hypertrophic neuropathy

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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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7 January 2021

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

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7 January 2021

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

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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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Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p

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7 January 2021

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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7 January 2021

Regional mapping panel for human chromosome 17: application to neurofibromatosis type 1.

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7 January 2021

Partial gene duplication as a cause of human disease

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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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7 January 2021

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7 January 2021

A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones

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7 January 2021

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7 January 2021

Identifiers

DOI

10.1038/NG1292-292

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1303282%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

1 reference