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Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.

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Bibliographic Details
Title: Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.
Authors: Mohammed, Mohammed1 (AUTHOR), Al-Hashmi, Nadia1 (AUTHOR), Al-Rashdi, Samiya2 (AUTHOR), Al-Sukaiti, Nashat1 (AUTHOR), Al-Adawi, Kawther3 (AUTHOR), Al-Riyami, Marwa3 (AUTHOR), Al-Maawali, Almundher1,2,4 (AUTHOR) almaawali@squ.edu.om
Source: European Journal of Medical Genetics. Nov2019, Vol. 62 Issue 11, pN.PAG-N.PAG. 1p.
Database: Academic Search Ultimate
Description
ISSN:17697212
DOI:10.1016/j.ejmg.2018.11.017