Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene (Q24311502)

chemical synaptic transmission

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author name string

K Hayasaka

1

0 references

M Himoro

2

0 references

W Sato

3

0 references

G Takada

4

0 references

K Uyemura

5

0 references

N Shimizu

6

0 references

T D Bird

7

0 references

P M Conneally

8

0 references

P F Chance

https://scigraph.springernature.com/pub.10.1038/ng0993-31

9

0 references

language of work or name

English

0 references

publication date

September 1993

0 references

published in

Nature Genetics

0 references

volume

5

0 references

issue

1

0 references

page(s)

31-4

0 references

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038/NG0993-31

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

20 April 2017

1 reference

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

21 January 2018

1 reference

Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Genetic aspects of hereditary motor and sensory neuropathy (types I and II)

21 January 2018

1 reference

7 January 2021

Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17

1 reference

7 January 2021

Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus

1 reference

7 January 2021

X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.

1 reference

7 January 2021

X-linked neuropathy: gene localization with DNA probes

1 reference

7 January 2021

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

1 reference

7 January 2021

Structure and chromosomal localization of the gene encoding the human myelin protein zero (MPZ)

1 reference

7 January 2021

Construction of a physical map on mouse and human chromosome 1: comparison of 13 Mb of mouse and 11 Mb of human DNA

1 reference

7 January 2021

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

1 reference

7 January 2021

Isolation and analysis of the gene encoding peripheral myelin protein zero

1 reference

7 January 2021

Molecular cloning of cDNAs that encode the chicken Po protein: Evidence for early expression in avians

1 reference

7 January 2021

Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteins

1 reference

7 January 2021

Charcot-Marie-Tooth neuropathy related to chromosome 1.

1 reference

7 January 2021

Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17

1 reference

7 January 2021

Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc? receptor gene region

1 reference

7 January 2021

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

1 reference

7 January 2021

Biotinyl and phosphotyrosinyl phosphoramidite derivatives useful in the incorporation of multiple reporter groups on synthetic oligonucleotides

1 reference

7 January 2021

A simple method for generating single-stranded DNA probes labeled to high activities

1 reference

7 January 2021

DNA sequencing with chain-terminating inhibitors

1 reference

7 January 2021

Dimensions Publication ID

Identifiers

DOI

10.1038/NG0993-31

0 references

1000826475

0 references

Fatcat ID

release_d257wvpdcrh23hbzith44623se

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/d257wvpdcrh23hbzith44623se

24 November 2022