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