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X-linked myotubular myopathy in a family with three adult survivors
scientific article published on 01 August 2003
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12859411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12859411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
title
X-linked myotubular myopathy in a family with three adult survivors
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12859411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12859411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
main subject
X-linked myotubular myopathy
1 reference
based on heuristic
inferred from title
author name string
S Yu
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12859411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12859411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
J Manson
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12859411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12859411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
S White
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12859411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12859411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
A Bourne
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12859411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12859411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
H Waddy
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12859411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12859411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
M Davis
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12859411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12859411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
E Haan
series ordinal
7
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12859411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12859411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
publication date
1 August 2003
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12859411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12859411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
published in
Clinical Genetics
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12859411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12859411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
volume
64
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12859411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12859411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
issue
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12859411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12859411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
page(s)
148-152
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12859411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12859411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
cites work
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/10.1034%2FJ.1399-0004.2003.00118.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
MTM1 mutations in X-linked myotubular myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00118.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization of mutations in fifty North American patients with X-linked myotubular myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00118.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
X-linked myotubular myopathy--a long-term follow-up study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00118.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy. Mutation in brief no. 125. Online
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00118.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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/10.1034%2FJ.1399-0004.2003.00118.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Medical complications in long-term survivors with X-linked myotubular myopathy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00118.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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/10.1034%2FJ.1399-0004.2003.00118.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00118.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genotype-phenotype correlations in X-linked myotubular myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00118.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1034/J.1399-0004.2003.00118.X
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12859411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12859411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
PubMed publication ID
12859411
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12859411
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12859411%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
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