IDUA c.1733T>A ;(p.L578Q)
Variant ID: 4-997805-T-A
NM_000203.3(IDUA):c.1733T>A;(p.L578Q)
This variant was identified in 5 publications
Variant-Specific Resource Links:
Publications:
Genetics and genomic medicine in Tunisia.
Molecular Genetics & Genomic Medicine
Elloumi-Zghal, Houda H; Chaabouni Bouhamed, Habiba H
Publication Date: 2018-03
Variant appearance in text: IDUA: Leu578Gln
Variant Present in the following documents:
Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.
Orphanet Journal Of Rare Diseases
Ou, Li L; Przybilla, Michael J MJ; Whitley, Chester B CB
Publication Date: 2017-07-04
Variant appearance in text: IDUA: L578Q
Variant Present in the following documents:
Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree.
Molecular Genetics And Metabolism Reports
Azab, Belal B; Dardas, Zain Z; Hamarsheh, Mohannad M; Alsalem, Mohammad M; Kilani, Zaid Z; Kilani, Farah F; Awidi, Abdalla A; Jafar, Hanan H; Amr, Sami S
Publication Date: 2017-09
Variant appearance in text: IDUA: L578Q
Variant Present in the following documents:
Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population.
Diagnostic Pathology
Chkioua, Latifa L; Khedhiri, Souhir S; Ben Turkia, Hadhami H; Chahed, Henda H; Ferchichi, Salima S; Ben Dridi, Marie Françoise MF; Laradi, Sandrine S; Miled, Abdelhedi A
Publication Date: 2011-11-10
Variant appearance in text: MPSI: L578Q
Variant Present in the following documents:
- Main text
- 1746-1596-6-113.pdf
Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms.
Diagnostic Pathology
Chkioua, Latifa L; Khedhiri, Souhir S; Kassab, Asma A; Bibi, Amina A; Ferchichi, Salima S; Froissart, Roseline R; Vianey-Saban, Christine C; Laradi, Sandrine S; Miled, Abdelhedi A
Publication Date: 2011-04-26
Variant appearance in text: IDUA: L578Q
Variant Present in the following documents:
- Main text
- 1746-1596-6-39.pdf