Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B. (Q42670914)

4 November 2017

title

Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B. (English)

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4 November 2017

13

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Valeria Marigo

2

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Alessandra Bolino

object named as

Alessandra Bolino

1

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Lawrence Wrabetz

11

object named as

Lawrence Wrabetz

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4 November 2017

12

Roberto Ravazzolo

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10

Maria Laura Feltri

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4 November 2017

Francesca Ferrera

3

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Julie Loader

4

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Leila Romio

5

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Antonio Leoni

6

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Marco Di Duca

7

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4 November 2017

Roberta Cinti

8

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Chiara Cecchi

9

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4 November 2017

language of work or name

English

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publication date

1 January 2002

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4 November 2017

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4 November 2017

volume

283

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issue

1-2

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4 November 2017

page(s)

17-26

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Basic local alignment search tool

4 November 2017

cites work

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https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900876-9

7 January 2021

Periaxin mutations cause recessive Dejerine-Sottas neuropathy

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7 January 2021

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

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

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7 January 2021

Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy

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https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900876-9

7 January 2021

Differential distribution of long and short interspersed element sequences in the mouse genome: chromosome karyotyping by fluorescence in situ hybridization

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7 January 2021

Translation start site multiplicity of the CCAAT/enhancer binding protein alpha mRNA is dictated by a small 5' open reading frame.

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7 January 2021

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease

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https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900876-9

7 January 2021

Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin

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7 January 2021

Adherence to the first-AUG rule when a second AUG codon follows closely upon the first

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7 January 2021

Enzymatic synthesis of biotin-labeled polynucleotides: novel nucleic acid affinity probes

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7 January 2021

The myotubularin family: from genetic disease to phosphoinositide metabolism

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7 January 2021

PTEN and myotubularin: novel phosphoinositide phosphatases

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7 January 2021

Sonic hedgehog differentially regulates expression of GLI and GLI3 during limb development

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7 January 2021

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

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7 January 2021

Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family.

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https://api.crossref.org/works/10.1016%2FS0378-1119%2801%2900876-9

7 January 2021

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

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7 January 2021

10.1016/S0378-1119(01)00876-9

Identifiers

DOI

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4 November 2017

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