(Q37336153)

19 August 2017

Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population (English)

1 reference

Hermansky-Pudlak syndrome

19 August 2017

1 reference

1 reference

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26575419%20AND%20SRC:MED&resulttype=core&format=json

University of Washington Center for Mendelian Genomics

7 June 2020

7

object named as

University of Washington Center for Mendelian Genomics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26575419%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

11

Saima Riazuddin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26575419%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

1

Sairah Yousaf

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26575419%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

5

Nabeela Tariq

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26575419%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

author name string

Mohsin Shahzad

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26575419%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Tasleem Kausar

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26575419%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Shakeel A Sheikh

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26575419%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Asra S Shabbir

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26575419%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Muhammad Ali

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26575419%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Rehan S Shaikh

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26575419%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Zubair M Ahmed

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26575419%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

language of work or name

1 reference

17 November 2015

1 reference

Pigment Cell & Melanoma Research

19 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26575419%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

volume

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26575419%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26575419%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

page(s)

231-235

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26575419%20AND%20SRC:MED&resulttype=core&format=json

Hypopigmentation in Hermansky-Pudlak syndrome

7 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062593

Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062593

BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062593

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062593

Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062593

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062593

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062593

Genetics of pigmentary disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062593

The building BLOC(k)s of lysosomes and related organelles

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062593

Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062593

Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062593

Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5062593

Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26575419

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Hermansky-Pudlak syndrome (HPS). An epidemiologic study

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26575419

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/PCMR.12438

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26575419%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26575419%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

PubMed publication ID

26575419

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26575419%20AND%20SRC:MED&resulttype=core&format=json