Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico (Q34084038)

30 July 2017

Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico (English)

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Hermansky-Pudlak syndrome

30 July 2017

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Anikster Y

1

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30 July 2017

Huizing M

2

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30 July 2017

White J

3

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30 July 2017

Shevchenko YO

4

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30 July 2017

Fitzpatrick DL

5

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30 July 2017

Touchman JW

6

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30 July 2017

Compton JG

7

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30 July 2017

Bale SJ

8

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30 July 2017

Swank RT

9

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30 July 2017

Gahl WA

10

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Toro JR

11

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30 July 2017

language of work or name

English

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publication date

1 August 2001

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30 July 2017

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28

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4

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376-380

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https://scigraph.springernature.com/pub.10.1038/ng576

30 July 2017

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cites work

Hermansky-Pudlak syndrome and related disorders of organelle formation

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7 January 2021

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

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7 January 2021

Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles

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7 January 2021

Hermansky-Pudlak syndrome: models for intracellular vesicle formation

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7 January 2021

Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity

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7 January 2021

Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene

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7 January 2021

The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness

1 reference

7 January 2021

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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7 January 2021

A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation

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7 January 2021

Beta3A-adaptin, a subunit of the adaptor-like complex AP-3

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7 January 2021

Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome

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7 January 2021

Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome

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7 January 2021

Mouse models of Hermansky Pudlak syndrome: a review

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7 January 2021

Membranes and sorting

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7 January 2021

Association of the AP-3 adaptor complex with clathrin

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7 January 2021

A di-leucine-based motif in the cytoplasmic tail of LIMP-II and tyrosinase mediates selective binding of AP-3.

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7 January 2021

Structural determinants of interaction of tyrosine-based sorting signals with the adaptor medium chains

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7 January 2021

Signal-mediated sorting of membrane proteins between the endoplasmic reticulum and the golgi apparatus

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7 January 2021

The targeting and assembly of peroxisomal proteins: some old rules do not apply

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7 January 2021

Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism

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7 January 2021

Alu repeats and human disease

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7 January 2021

Identifiers

DOI

10.1038/NG576

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30 July 2017

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