Clinical and Molecular Findings of Nine Cases with Tay-Sachs Disease From Türkiye
Clinical and Molecular Findings of Nine Cases with Tay-Sachs Disease From Türkiye
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Istanbul: Galenos Publishing House
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Istanbul: Galenos Publishing House
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Conclusion:Our study both reassessed and expanded the known mutation spectrum of Tay-Sachs disease in Türkiye. Given the expanding horizon of newborn screening and population carrier testing, understanding the spectrum of population-specific disease-causing variants will facilitate early diagnosis of patients and carriers.Results:Three disease-cau...
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Clinical and Molecular Findings of Nine Cases with Tay-Sachs Disease From Türkiye
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TN_cdi_proquest_journals_3198178786
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_3198178786
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1305-9319
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1305-9327
DOI
10.4274/BMJ.galenos.2023.2022.9-10
