(Q74127845)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452091%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Mutations of the same sequence of the myelin P0 gene causing two different phenotypes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452091%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

author name string

F Schiavon

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452091%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

A Rampazzo

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452091%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

L Merlini

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452091%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

C Angelini

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452091%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

M L Mostacciuolo

5

1 reference

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9 November 2019

publication date

1 January 1998

1 reference

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9 November 2019

1 reference

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9 November 2019

volume

Suppl 1

1 reference

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9 November 2019

page(s)

S217-9

1 reference

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Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110170

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110170

7 January 2021

Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110170

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110170

7 January 2021

Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110170

7 January 2021

Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110170

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110170

7 January 2021

Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110170

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110170

7 January 2021

Identification of a de novo insertional mutation in P0 in a patient with a Déjérine-Sottas syndrome (DSS) phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110170

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110170

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110170

7 January 2021

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110170

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110170

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380110170

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452091%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference