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Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree.
Azab, Belal; Dardas, Zain; Hamarsheh, Mohannad; Alsalem, Mohammad; Kilani, Zaid; Kilani, Farah; Awidi, Abdalla; Jafar, Hanan; Amr, Sami.
Affiliation
  • Azab B; Department of Physiology and Biochemistry, School of Medicine, The University of Jordan, Amman 11942, Jordan.
  • Dardas Z; Department of Medical Laboratory Sciences, School of Science, The University of Jordan, Amman 11942, Jordan.
  • Hamarsheh M; Cell Therapy Center, The University of Jordan, Amman 11942, Jordan.
  • Alsalem M; Department of Medical Laboratory Sciences, School of Science, The University of Jordan, Amman 11942, Jordan.
  • Kilani Z; Cell Therapy Center, The University of Jordan, Amman 11942, Jordan.
  • Kilani F; Department of Medical Laboratory Sciences, Faculty of Applied Medical sciences, Jordan University of Science and Technology, Irbid 22110, Jordan.
  • Awidi A; Farah Hospital, Amman 11183, Jordan.
  • Jafar H; Department of Anatomy and Histology, School of Medicine, The University of Jordan, Amman 11942, Jordan.
  • Amr S; Farah Hospital, Amman 11183, Jordan.
Mol Genet Metab Rep ; 12: 76-79, 2017 Sep.
Article in En | MEDLINE | ID: mdl-28649516
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Mol Genet Metab Rep Year: 2017 Document type: Article Affiliation country: Jordania Country of publication: Estados Unidos
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Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Mol Genet Metab Rep Year: 2017 Document type: Article Affiliation country: Jordania Country of publication: Estados Unidos