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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Scheie Syndrome [original query]
Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome.
Diagnostic pathology 2018 5 13 (1): 35.
Chkioua Latifa, Boudabous Hela, Jaballi Ibtissem, Grissa Oussama, Turkia Hadhami Ben, Tebib Neji, Laradi Sandri
Mutation Analysis of the IDUA Gene in Iranian Patients with Mucopolysaccharidosis Type 1: Identification of Four Novel Mutations.
Genetic testing and molecular biomarkers 2019 7 23 (8): 515-522.
Kamranjam Mana, Alaei Mohammadre
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