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A Type 3 Gaucher-Like Disease Due To Saposin C Deficiency in Two Emirati Families Caused by a Novel Splice Site Variant in the PSAP Gene.
Mohamed, Feda E; Ali, Amanat; Al-Tenaiji, Amal; Al-Jasmi, Amina; Al-Jasmi, Fatma.
Affiliation
  • Mohamed FE; Department of Genetics & Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
  • Ali A; Department of Genetics & Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
  • Al-Tenaiji A; Department of Pediatrics, Sheikh Khalifa Medical City, PO Box 51900, Abu Dhabi, United Arab Emirates.
  • Al-Jasmi A; Department of Radiology, Al Qassimi Hospital, PO Box 3500, Sharjah, United Arab Emirates.
  • Al-Jasmi F; Department of Genetics & Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates. aljasmif@uaeu.ac.ae.
J Mol Neurosci ; 72(6): 1322-1333, 2022 Jun.
Article in En | MEDLINE | ID: mdl-35316504
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: RNA Splice Sites / Saposins / Gaucher Disease Type of study: Prognostic_studies Limits: Humans Country/Region as subject: Asia Language: En Journal: J Mol Neurosci Year: 2022 Document type: Article
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: RNA Splice Sites / Saposins / Gaucher Disease Type of study: Prognostic_studies Limits: Humans Country/Region as subject: Asia Language: En Journal: J Mol Neurosci Year: 2022 Document type: Article