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English
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
17470135
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17470135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 December 2019
title
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
17470135
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17470135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 December 2019
main subject
SH3 domain
0 references
author
Vincenzo Lupo
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed ID
17470135
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17470135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 December 2019
Juan J. Vílchez
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed ID
17470135
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17470135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 December 2019
Francesc Palau
series ordinal
7
1 reference
stated in
Europe PubMed Central
PubMed ID
17470135
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17470135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 December 2019
Carmen Espinós
series ordinal
8
1 reference
stated in
Europe PubMed Central
PubMed ID
17470135
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17470135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 December 2019
author name string
Claramunt R
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
17470135
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17470135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 December 2019
Sevilla T
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
17470135
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17470135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 December 2019
Cuesta A
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed ID
17470135
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17470135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 December 2019
Millán JM
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed ID
17470135
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17470135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 December 2019
publication date
1 April 2007
1 reference
stated in
Europe PubMed Central
PubMed ID
17470135
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17470135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 December 2019
published in
Clinical Genetics
1 reference
stated in
Europe PubMed Central
PubMed ID
17470135
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17470135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 December 2019
volume
71
1 reference
stated in
Europe PubMed Central
PubMed ID
17470135
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17470135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 December 2019
issue
4
1 reference
stated in
Europe PubMed Central
PubMed ID
17470135
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17470135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 December 2019
page(s)
343-349
1 reference
stated in
Europe PubMed Central
PubMed ID
17470135
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17470135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 December 2019
cites work
Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00774.X
retrieved
21 January 2018
High prevalence of theW24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00774.X
retrieved
21 January 2018
Identifiers
DOI
10.1111/J.1399-0004.2007.00774.X
1 reference
stated in
Europe PubMed Central
PubMed ID
17470135
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17470135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 December 2019
PubMed ID
17470135
1 reference
stated in
Europe PubMed Central
PubMed ID
17470135
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17470135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 December 2019
ResearchGate publication ID
6360195
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