(Q28246179)

English

Identification of a novel mutation in the polymerase delta 1 (POLD1) gene in a lipodystrophic patient affected by mandibular hypoplasia, deafness, progeroid features (MDPL) syndrome

scientific article (publication date: November 2014)

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25131834%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Identification of a novel mutation in the polymerase delta 1 (POLD1) gene in a lipodystrophic patient affected by mandibular hypoplasia, deafness, progeroid features (MDPL) syndrome (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25131834%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

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Giovanni Ceccarini

3

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25131834%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Ferruccio Santini

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Ferruccio Santini

10

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Caterina Pelosini

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25131834%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Silvia Martinelli

2

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12 March 2020

Silvia Magno

4

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Europe PubMed Central

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12 March 2020

Ilaria Barone

5

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Europe PubMed Central

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12 March 2020

Alessio Basolo

6

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Europe PubMed Central

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12 March 2020

Paola Fierabracci

7

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25131834%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Paolo Vitti

8

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25131834%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Margherita Maffei

9

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12 March 2020

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25 July 2014

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12 March 2020

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25131834%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

63

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12 March 2020

11

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12 March 2020

1385-1389

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Europe PubMed Central

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12 March 2020

Identifiers

10.1016/J.METABOL.2014.07.010

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25131834%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25131834%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

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