(Q38239378)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25117010%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

title

Hermansky-Pudlak syndrome. Overview of clinical and molecular features and case report of a new HPS-1 variant (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25117010%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25117010%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Maria L. Lozano

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25117010%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Vicente Vicente

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25117010%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

José Rivera

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25117010%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

author name string

I Sánchez-Guiu

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25117010%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

J M Torregrosa

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25117010%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

F Velasco

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25117010%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

publication date

13 August 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25117010%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25117010%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

volume

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25117010%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25117010%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

page(s)

301-309

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25117010%20AND%20SRC:MED&resulttype=core&format=json

RETRACTED: A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.

12 March 2020

cites work

1 reference

30 December 2023

https://opencitations.net/index/api/v1/citations/10.1016/J.AJHG.2011.05.009

Identifiers

DOI

10.5482/HAMO-14-06-0024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25117010%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

1 reference