A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky Pudlak syndrome (HPS8)

N Morgan, S Pasha, J R Ainsworth, R A J Eady, C McKeown, R C Trembath, J Wilde, C A Johnson, E R Maher

Research output: Contribution to journalMeeting abstract

Original languageEnglish
Pages (from-to)S18 - S18
JournalJournal of Medical Genetics
Publication statusPublished - 2005
EventBritish Human Genetics Conference - York, ENGLAND, United Kingdom
Duration: 12 Sept 200514 Sept 2005

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