Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene (Q24324233)

peripheral nervous system development

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author name string

B B Roa

1

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P J Dyck

2

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H G Marks

3

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P F Chance

4

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J R Lupski

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

5

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publication date

November 1993

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language of work or name

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5

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issue

3

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page(s)

269-73

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cites work

1 reference

https://api.crossref.org/works/10.1038/NG1193-269

Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies

20 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-269

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-269

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-269

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-269

Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-269

Trembler mouse carries a point mutation in a myelin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-269

Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-269

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-269

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-269

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-269

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-269

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/10.1038%2FNG1193-269

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-269

7 January 2021

Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12.

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-269

7 January 2021

Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-269

7 January 2021

Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-269

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-269

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-269

7 January 2021

Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-269

7 January 2021

Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1a)

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-269

7 January 2021

Homozygous expression of a dominant gene for charcot-marie-tooth neuropathy

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-269

7 January 2021

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-269

7 January 2021

Suggestions for "safe" residue substitutions in site-directed mutagenesis

1 reference

https://api.crossref.org/works/10.1038%2FNG1193-269

7 January 2021