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English
Novel human pathological mutations. Gene symbol: PMP22. Disease: Charcot-Marie-Tooth syndrome type 1A
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
18380017
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18380017%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 May 2020
title
Novel human pathological mutations. Gene symbol: PMP22. Disease: Charcot-Marie-Tooth syndrome type 1A
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
18380017
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18380017%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 May 2020
author name string
Bernd Rautenstrauss
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
18380017
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18380017%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 May 2020
Kathrin Huehne
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
18380017
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18380017%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 May 2020
Christian Thiel
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed ID
18380017
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18380017%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 May 2020
Cornelia Kraus
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed ID
18380017
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18380017%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 May 2020
publication date
1 December 2007
1 reference
stated in
Europe PubMed Central
PubMed ID
18380017
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18380017%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 May 2020
published in
Human Genetics
1 reference
stated in
Europe PubMed Central
PubMed ID
18380017
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18380017%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 May 2020
volume
122
1 reference
stated in
Europe PubMed Central
PubMed ID
18380017
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18380017%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 May 2020
issue
5
1 reference
stated in
Europe PubMed Central
PubMed ID
18380017
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18380017%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 May 2020
page(s)
545
1 reference
stated in
Europe PubMed Central
PubMed ID
18380017
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18380017%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 May 2020
Identifiers
DOI
10.1007/S00439-007-0423-2
1 reference
stated in
Europe PubMed Central
PubMed ID
18380017
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18380017%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 May 2020
PubMed ID
18380017
1 reference
stated in
Europe PubMed Central
PubMed ID
18380017
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18380017%20AND%20SRC:MED&resulttype=core&format=json
retrieved
30 May 2020
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