(Q71131058)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8655153%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

title

A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8655153%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

author name string

R Navon

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8655153%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

B Seifried

2

1 reference

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16 October 2019

N S Gal-On

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8655153%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

M Sadeh

4

1 reference

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16 October 2019

publication date

1 May 1996

1 reference

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16 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8655153%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

volume

97

1 reference

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16 October 2019

issue

5

1 reference

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16 October 2019

page(s)

685-687

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf02281883

16 October 2019

exact match

0 references

cites work

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Trembler mouse carries a point mutation in a myelin gene

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Rapid typing of tandemly repeated hypervariable loci by the polymerase chain reaction: application to the apolipoprotein B 3' hypervariable region

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF02281883

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8655153%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

1 reference