Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. (Q33901232)

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6 November 2019

title

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 (English)

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6 November 2019

1

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6 November 2019

Maria Muglia

2

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6 November 2019

Francesca Luisa Conforti

3

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6 November 2019

Mustafa A. Salih

5

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6 November 2019

Kyproula Christodoulou

7

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6 November 2019

Antonio Gambardella

11

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6 November 2019

Aldo Quattrone

13

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6 November 2019

Marcella Devoto

14

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Irena Hausmanowa-Petrusewicz

6 November 2019

8

object named as

I Hausmanowa-Petrusewicz

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6 November 2019

author name string

E LeGuern

4

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6 November 2019

D M Georgiou

6

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6 November 2019

P Mandich

9

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6 November 2019

A Schenone

10

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6 November 2019

F Bono

12

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6 November 2019

A P Monaco

15

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6 November 2019

language of work or name

English

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publication date

1 May 2000

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6 November 2019

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6 November 2019

volume

25

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6 November 2019

page(s)

17-19

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6 November 2019

issue

1

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https://scigraph.springernature.com/pub.10.1038/75542

6 November 2019

exact match

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cites work

Hereditary demyelinating neuropathy of infancy: a genetically complex syndrome.

1 reference

Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B).

21 January 2018

1 reference

Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15.

21 January 2018

1 reference

Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human

21 January 2018

1 reference

Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.

21 January 2018

1 reference

Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro

21 January 2018

1 reference

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

21 January 2018

1 reference

Association of SET domain and myotubularin-related proteins modulates growth control

21 January 2018

1 reference

Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing

21 January 2018

1 reference

A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Anti-phosphatases take the stage

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/75542

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10802647%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

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