(Q43620324)

25 November 2017

title

A double mutation in a patient with X-linked myotubular myopathy (English)

1 reference

25 November 2017

Tachi N

1

1 reference

25 November 2017

Kozuka N

2

1 reference

25 November 2017

Chiba S

3

1 reference

25 November 2017

Miyaji M

4

1 reference

25 November 2017

Watanabe I

5

1 reference

25 November 2017

publication date

1 April 2001

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25 November 2017

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25 November 2017

volume

24

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25 November 2017

issue

4

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25 November 2017

page(s)

297-299

1 reference

X-linked myotubular myopathy: clinical observations in ten additional cases

25 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900244-2

7 January 2021

The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900244-2

7 January 2021

X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900244-2

7 January 2021

Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900244-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900244-2

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%2FS0887-8994%2801%2900244-2

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%2FS0887-8994%2801%2900244-2

7 January 2021

Detecting single base substitutions as heteroduplex polymorphisms

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900244-2

7 January 2021

Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900244-2

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%2FS0887-8994%2801%2900244-2

7 January 2021

MTM1 mutations in X-linked myotubular myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900244-2

7 January 2021

Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1)

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900244-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900244-2

7 January 2021

10.1016/S0887-8994(01)00244-2

Identifiers

DOI

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25 November 2017

1 reference