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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 M; Department of Pediatrics, Royal Hospital, Ministry of Health, Muscat, Oman., Al-Hashmi N; Department of Pediatrics, Royal Hospital, Ministry of Health, Muscat, Oman., Al-Rashdi S; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman., Al-Sukaiti N; Department of Pediatrics, Royal Hospital, Ministry of Health, Muscat, Oman., Al-Adawi K; Department of Pathology, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman., Al-Riyami M; Department of Pathology, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman., Al-Maawali A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman. Electronic address: almaawali@squ.edu.om.
Source: European journal of medical genetics [Eur J Med Genet] 2019 Nov; Vol. 62 (11), pp. 103583. Date of Electronic Publication: 2018 Nov 22.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1878-0849
DOI:10.1016/j.ejmg.2018.11.017