(Q42591829)

3 November 2017

High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients (English)

1 reference

3 November 2017

8

Agid Y

1 reference

3 November 2017

Rouger H

1

1 reference

3 November 2017

LeGuern E

2

1 reference

3 November 2017

Gouider R

3

1 reference

3 November 2017

Tardieu S

4

1 reference

3 November 2017

Birouk N

5

1 reference

3 November 2017

Gugenheim M

6

1 reference

3 November 2017

Bouche P

7

1 reference

3 November 2017

Brice A

9

1 reference

3 November 2017

language of work or name

English

0 references

publication date

1 March 1996

1 reference

American Journal of Human Genetics

3 November 2017

1 reference

3 November 2017

58

1 reference

3 November 2017

3

1 reference

3 November 2017

638-641

1 reference

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

3 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914563

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914563

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914563

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914563

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914563

The major peripheral myelin protein zero gene: structure and localization in the cluster of Fc gamma receptor genes on human chromosome 1q21.3-q23

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914563

New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914563

Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914563

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914563

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914563

Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914563

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914563

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914563

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

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914563

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

1 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8644725

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

3 November 2017

PubMed publication ID

8644725

1 reference