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: Phe177Ser

PubMed Link: 29663716

Variant Present in the following documents:

• Main text
• MGG3-6-134.pdf

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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: F177S

PubMed Link: 28676128

Variant Present in the following documents:

• Main text

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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: F177S

PubMed Link: 28649516

Variant Present in the following documents:

• Main text
• main.pdf

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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: F177S

PubMed Link: 22074387

Variant Present in the following documents:

• Main text

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Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients.

Diagnostic Pathology

Chkioua, Latifa L; Khedhiri, Souhir S; Turkia, Hadhami Ben HB; Tcheng, Rémy R; Froissart, Roseline R; Chahed, Henda H; Ferchichi, Salima S; Ben Dridi, Marie Françoise MF; Vianey-Saban, Christine C; Laradi, Sandrine S; Miled, Abdelhedi A

Publication Date: 2011-06-03

Variant appearance in text: IDUA: F177S

PubMed Link: 21639919

Variant Present in the following documents:

• Main text
• 1746-1596-6-47.pdf

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