Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder
Author:
Funder
His Majesty Trust Funds at the Sultan Qaboos University
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference20 articles.
1. Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome;Ammann;Blood,2016
2. Autosomal-recessive mutations in AP3B2, adaptor-related protein complex 3 beta 2 subunit, cause an early-onset epileptic encephalopathy with optic atrophy;Assoum;Am. J. Hum. Genet.,2016
3. Secretory lysossomes;Blott;Nat. Rev. Mol. Cell Biol.,2002
4. AP-3-dependent trafficking and disease: the first decade;Dell'Angelica;Curr. Opin. Cell Biol.,2009
5. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the β3A subunit of the AP-3 adaptor;Dell'Angelica;Mol. Cell.,1999
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