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A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report.
Jilani, Houweyda; Hsoumi, Faten; Rejeb, Imen; Elaribi, Yasmina; Hizem, Syrine; Sebai, Molka; Rolfs, Arndt; Benjemaa, Lamia.
Affiliation
  • Jilani H; Genetic Department Mongi Slim Hospital Marsa, Tunis Tunisia.
  • Hsoumi F; Genetic Laboratory Faculty of Medicine of Tunis University of Tunis El Manar Tunis Tunisia.
  • Rejeb I; Genetic Department Mongi Slim Hospital Marsa, Tunis Tunisia.
  • Elaribi Y; Genetic Department Mongi Slim Hospital Marsa, Tunis Tunisia.
  • Hizem S; Genetic Department Mongi Slim Hospital Marsa, Tunis Tunisia.
  • Sebai M; Genetic Laboratory Faculty of Medicine of Tunis University of Tunis El Manar Tunis Tunisia.
  • Rolfs A; Genetic Department Mongi Slim Hospital Marsa, Tunis Tunisia.
  • Benjemaa L; Genetic Laboratory Faculty of Medicine of Tunis University of Tunis El Manar Tunis Tunisia.
Clin Case Rep ; 10(5): e05846, 2022 May.
Article in En | MEDLINE | ID: mdl-35592045
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Clin Case Rep Year: 2022 Document type: Article
Fulltext
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Clin Case Rep Year: 2022 Document type: Article