Citations for
1AP3D1, HPS10
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.
Ammann S, Schulz A, Krägeloh-Mann I, Dieckmann NM, Niethammer K, Fuchs S, Eckl KM, Plank R, Werner R, Altmüller J, Thiele H, Nürnberg P, Bank J, Strauss A, von Bernuth H, Zur Stadt U, Grieve S, Griffiths GM, Lehmberg K, Hennies HC, Ehl S.
Blood 127(8):997-1006. doi: 10.1182/blood-2015-09-671636. 2016
2AP3D1, HPS10
A new type of syndromic albinism associated with mutations in AP3D1.
Montoliu L, Marks MS.
Pigment Cell Melanoma Res igment Cell Melanoma Res. 2016 Oct 19. doi: 10.1111/pcmr.12543. [Epub ahead of print] No abstract available. 2016