Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC). (Q44006759)

28 November 2017

Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC). (English)

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28 November 2017

5

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28 November 2017

6

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28 November 2017

Alessandro De Luca

2

1 reference

ORCID Public Data File 2021

author name string

Elisabetta Flex

series ordinal

1

1 reference

PubMed ID

12031625

28 November 2017

Maria Rosaria D'Apice

series ordinal

3

1 reference

PubMed ID

12031625

28 November 2017

Anna Buccino

series ordinal

4

1 reference

28 November 2017

1 June 2002

1 reference

28 November 2017

Neuromuscular Disorders

1 reference

28 November 2017

12

1 reference

28 November 2017

5

1 reference

28 November 2017

501-505

1 reference

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

28 November 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900328-5

7 January 2021

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900328-5

7 January 2021

Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900328-5

7 January 2021

Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900328-5

7 January 2021

Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900328-5

7 January 2021

The myotubularin family: from genetic disease to phosphoinositide metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900328-5

7 January 2021

MTM1 mutations in X-linked myotubular myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900328-5

7 January 2021

Denaturing high-performance liquid chromatography: A review

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900328-5

7 January 2021

A Novel Mutation (R271X) in the Myotubularin Gene Causes a Severe Miotubular Myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900328-5

7 January 2021

MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900328-5

7 January 2021

Medical complications in long-term survivors with X-linked myotubular myopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900328-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900328-5

7 January 2021

10.1016/S0960-8966(01)00328-5

Identifiers

DOI

1 reference

28 November 2017

1 reference

PubMed ID

12031625