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Case Reports
. 2010 Jul;8(7):1643-5.
doi: 10.1111/j.1538-7836.2010.03898.x. Epub 2010 Apr 30.

Hermansky-Pudlak syndrome: the importance of molecular subtyping

N Thielen, M Huizing, J G Krabbe, J G White, T J Jansen, P A Merle, W A Gahl, S Zweegman
Case Reports

Hermansky-Pudlak syndrome: the importance of molecular subtyping

N Thielen et al. J Thromb Haemost. 2010 Jul.
No abstract available

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Figures

Fig. 1
Fig. 1
(A) Whole mount electron microscopy. Left panel: Normal platelet with dense bodies (arrows) and alpha granula. Right panel: Platelet from a patient with HPS lacking dense bodies. (B) Patient 1 exhibited a homozygous splice site mutation c.855-1G>A (IVS4-1 G>A) in the HPS3 gene at the intron 3-exon 4 boundary (right panel) compared to the normal splice consensus sequence (left panel). (C) Patient 4 was compound heterozygous for mutations in HPS1; a novel nonsense mutation (c.461G>A; p.W154X) in exon 6 (left panel) and a previously reported missense mutation (c.716T>C; p.L239P) in exon 8 (right panel).
See this image and copyright information in PMC

References

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