Reference
Ammann, Sandra, et al. “Mutations in AP3D1 Associated With Immunodeficiency and Seizures Define a New Type of Hermansky-Pudlak Syndrome”. Blood, vol. 127, no. 8, Jan. 2016, pp. 997–1006, https://doi.org/10.1182/blood-2015-09-671636.
PubMed Reference Number (PMID)
26744459