(Q58380622)

1

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Teresa Sevilla

2

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Javier García-Planells

3

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David Blesa

4

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Nuria Paricio

5

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Juan J. Vílchez

6

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Felix Prieto

7

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Francesc Palau

De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)

8

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publication date

1998

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published in

Human Mutation

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volume

11

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issue

S1

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page(s)

S95-S98

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110132

Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110132

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110132

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/10.1002%2FHUMU.1380110132

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/10.1002%2FHUMU.1380110132

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110132

Molecular genetics of Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110132

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110132

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/10.1002%2FHUMU.1380110132

Genetic analysis of protein stability and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110132

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/10.1002%2FHUMU.1380110132

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110132

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110132

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/10.1002%2FHUMU.1380110132

7 January 2021

Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110132

7 January 2021