Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6 (Q24610520)

2

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R A Hess

3

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A Griffin

4

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A Helip-Wooley

5

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W Westbroek

6

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H Dorward

7

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K J O'Brien

8

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G Golas

9

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E Tsilou

10

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J G White

11

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W A Gahl

Journal of Medical Genetics

12

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language of work or name

English

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publication date

December 2009

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published in

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volume

46

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issue

12

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page(s)

803-10

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cites work

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A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)

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Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4

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Pmel17 initiates premelanosome morphogenesis within multivesicular bodies

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

7 April 2017

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

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

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

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Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases

27 September 2017

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Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5.

27 September 2017

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Innate immunity defects in Hermansky-Pudlak type 2 syndrome

28 November 2018

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Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1.

28 November 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500784

Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends

28 November 2018

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Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies.

28 November 2018

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

28 November 2018

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

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19843503

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19843503

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19843503