(Q34017395)

30 July 2017

title

Hermansky-Pudlak syndrome: the importance of molecular subtyping (English)

1 reference

Hermansky-Pudlak syndrome

30 July 2017

main subject

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N Thielen

1

1 reference

30 July 2017

M Huizing

2

1 reference

30 July 2017

J G Krabbe

3

1 reference

30 July 2017

J G White

4

1 reference

30 July 2017

T J Jansen

5

1 reference

30 July 2017

P A Merle

6

1 reference

30 July 2017

W A Gahl

7

1 reference

30 July 2017

S Zweegman

8

1 reference

30 July 2017

publication date

30 April 2010

1 reference

Journal of Thrombosis and Haemostasis

30 July 2017

published in

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30 July 2017

volume

8

1 reference

30 July 2017

issue

7

1 reference

30 July 2017

page(s)

1643-1645

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Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1.

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909352

Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909352

Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909352

Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909352

Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909352

Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909352

Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909352

10.1111/J.1538-7836.2010.03898.X

29 October 2018

Identifiers

DOI

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30 July 2017

1 reference

30 July 2017

1 reference