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English
A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children
scientific article published on 01 June 2000
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10862088
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10862088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
title
A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10862088
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10862088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
main subject
Infantile neuronal ceroid lipofuscinosis
0 references
author name string
Tessa A
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10862088
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10862088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
Simonati A
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10862088
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10862088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
Tavoni A
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10862088
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10862088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
Bertini E
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10862088
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10862088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
Santorelli FM
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10862088
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10862088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
publication date
1 June 2000
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10862088
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10862088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10862088
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10862088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
volume
15
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10862088
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10862088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
issue
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10862088
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10862088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
page(s)
577
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10862088
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10862088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
Identifiers
DOI
10.1002/1098-1004(200006)15:6<577::AID-HUMU10>3.0.CO;2-Z
0 references
PubMed publication ID
10862088
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10862088
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10862088%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
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