A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8) by Morgan Neil V, Pasha Shanaz, Johnson Colin A, Ainsworth John R, Eady Robin A J, Dawood Ban, McKeown Carole, Trembath Richard C, Wilde Jonathan, Watson Steve P, Maher Eamonn R in American journal of human genetics (2006).

[PMID: 16385460] PubMed

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