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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.
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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  Data: Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.
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  Data: <searchLink fieldCode="AU" term="%22Mohammed+M%22">Mohammed M</searchLink>; Department of Pediatrics, Royal Hospital, Ministry of Health, Muscat, Oman.<br /><searchLink fieldCode="AU" term="%22Al-Hashmi+N%22">Al-Hashmi N</searchLink>; Department of Pediatrics, Royal Hospital, Ministry of Health, Muscat, Oman.<br /><searchLink fieldCode="AU" term="%22Al-Rashdi+S%22">Al-Rashdi S</searchLink>; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.<br /><searchLink fieldCode="AU" term="%22Al-Sukaiti+N%22">Al-Sukaiti N</searchLink>; Department of Pediatrics, Royal Hospital, Ministry of Health, Muscat, Oman.<br /><searchLink fieldCode="AU" term="%22Al-Adawi+K%22">Al-Adawi K</searchLink>; Department of Pathology, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.<br /><searchLink fieldCode="AU" term="%22Al-Riyami+M%22">Al-Riyami M</searchLink>; Department of Pathology, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.<br /><searchLink fieldCode="AU" term="%22Al-Maawali+A%22">Al-Maawali A</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101247089%22">European journal of medical genetics</searchLink> [Eur J Med Genet] 2019 Nov; Vol. 62 (11), pp. 103583. <i>Date of Electronic Publication: </i>2018 Nov 22.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>101247089 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1878-0849 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217697212%22">17697212 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Med Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1016/j.ejmg.2018.11.017
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        Text: English
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      – TitleFull: Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.
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              Text: 2019 Nov
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              Y: 2019
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