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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

Does Hermansky-Pudlak syndrome predispose to systemic lupus erythematosus?

We report a Japanese patient with Hermansky-Pudlak syndrome ( HPS) who developed systemic lupus erythematosus ( SLE). This is the second case report of HPS complicated with SLE. A 1-bp duplication of adenine at codon 441 was found in the HPS gene, namely HPS1, which caused a frameshift. This case serves as evidence indicating that a patient with HPS can be predisposed to SLE.[1]

References

  1. Does Hermansky-Pudlak syndrome predispose to systemic lupus erythematosus? Mitsui, H., Komine, M., Watanabe, T., Kikuchi, K., Okochi, H., Tamaki, K. Br. J. Dermatol. (2002) [Pubmed]
 
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