Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome) [correction of (Hennansky-Pudlak)].
Children's Hospital, Boston, MA 02115, USA. fultona@a1.tch.harvard.edu
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Fulton
D016115:Albinism, Oculocutaneous / Q000235:genetics*; D005091:Exons; D020440:Gene Duplication; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation
C102160:HPS1 protein, human; D008565:Membrane Proteins