Academic Journal
Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder
| العنوان: | Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder |
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| المؤلفون: | Mohammed, Mohammed, Al-Hashmi, Nadia, Al-Rashdi, Samiya, Al-Sukaiti, Nashat, Al-Adawi, Kawther, Al-Riyami, Marwa, Al-Maawali, Almundher |
| المساهمون: | His Majesty Trust Funds at the Sultan Qaboos University |
| المصدر: | European Journal of Medical Genetics ; volume 62, issue 11, page 103583 ; ISSN 1769-7212 |
| بيانات النشر: | Elsevier BV |
| سنة النشر: | 2019 |
| المجموعة: | ScienceDirect (Elsevier - Open Access Articles via Crossref) |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1016/j.ejmg.2018.11.017 |
| الاتاحة: | http://dx.doi.org/10.1016/j.ejmg.2018.11.017 https://api.elsevier.com/content/article/PII:S1769721218305986?httpAccept=text/xml https://api.elsevier.com/content/article/PII:S1769721218305986?httpAccept=text/plain |
| Rights: | https://www.elsevier.com/tdm/userlicense/1.0/ |
| رقم الانضمام: | edsbas.619DF2E7 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/j.ejmg.2018.11.017 |
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