Biallelic mutations in AP3D1 cause Hermansky-Pudlak...

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European Journal of Medical Genetics 2018 / 11

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

Mohammed, Mohammed, Al-Hashmi, Nadia, Al-Rashdi, Samiya, Al-Sukaiti, Nashat, Al-Adawi, Kawther, Al-Riyami, Marwa, Al-Maawali, Almundher
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Language:
english
Journal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2018.11.017
Date:
November, 2018
File:
PDF, 1.97 MB
english, 2018
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