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MTM1 mutations in X-linked myotubular myopathy
scientific article (publication date: 2000)
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scholarly article
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review article
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Europe PubMed Central
title
MTM1 mutations in X-linked myotubular myopathy
(English)
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main subject
X-linked myotubular myopathy
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inferred from title
author
Jean-Louis Mandel
series ordinal
11
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S Liechti-Gallati
series ordinal
10
object named as
S Liechti-Gallati
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author name string
J Laporte
series ordinal
1
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V Biancalana
series ordinal
2
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S M Tanner
series ordinal
3
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W Kress
series ordinal
4
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V Schneider
series ordinal
5
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C Wallgren-Pettersson
series ordinal
6
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F Herger
series ordinal
7
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A Buj-Bello
series ordinal
8
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F Blondeau
series ordinal
9
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language of work or name
English
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publication date
2000
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published in
Human Mutation
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volume
15
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page(s)
393-409
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issue
5
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cites work
Complete sequence of a 38.4-kb human cosmid insert containing the polymorphic marker DXS455 from Xq28.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
Characterization of differentially expressed genes in purified Drosophila follicle cells: toward a general strategy for cell type-specific developmental analysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
Association of SET domain and myotubularin-related proteins modulates growth control
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
A Novel Mutation (R271X) in the Myotubularin Gene Causes a Severe Miotubular Myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
Growth stimulation of primary B cell precursors by the anti-phosphatase Sbf1.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
Development of "substrate-trapping" mutants to identify physiological substrates of protein tyrosine phosphatases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
Germline mosaicism in X-linked myotubular myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
Congenital centronuclear (myotubular) myopathy. A clinical, pathological and genetic study in eight children.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
Myotubular myopathy: morphological, immunohistochemical and clinical variation.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
Medical complications in long-term survivors with X-linked myotubular myopathy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
The human gene mutation database
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
X-linked centronuclear myopathy: Mapping the gene to Xq28
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
X-linked myotubular myopathy: refinement of the critical gene region
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
Involvement of a homolog of Drosophila trithorax by 11q23 chromosomal translocations in acute leukemias
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200005%2915%3A5%3C393%3A%3AAID-HUMU1%3E3.0.CO%3B2-R
retrieved
21 January 2018
Identifiers
DOI
10.1002/(SICI)1098-1004(200005)15:5<393::AID-HUMU1>3.0.CO;2-R
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
5037820
OpenCitations bibliographic resource ID
5037820
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
5037820
PubMed ID
10790201
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
5037820
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