Hermansky-Pudlak syndrome 9

Common Name(s)

Hermansky-Pudlak syndrome 9

Description for this condition is not yet available.
 

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Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hermansky-Pudlak syndrome 9" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hermansky-Pudlak syndrome 9" returned 1 free, full-text research articles on human participants. First 3 results:

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

Author(s): Andrew R Cullinane, James A Curry, Carmelo Carmona-Rivera, C Gail Summers, Carla Ciccone, Nicholas D Cardillo, Heidi Dorward, Richard A Hess, James G White, David Adams, Marjan Huizing, William A Gahl

Journal: Am. J. Hum. Genet.. 2011 Jun;88(6):778-87.

 

Hermansky-Pudlak Syndrome (HPS) is an autosomal-recessive condition characterized by oculocutaneous albinism and a bleeding diathesis due to absent platelet delta granules. HPS is a genetically heterogeneous disorder of intracellular vesicle biogenesis. We first screened all our patients ...

Last Updated: 13 Jun 2011

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Reviews from the PubMed Database

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The terms "Hermansky-Pudlak syndrome 9" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.