The first family with Tay-Sachs disease in Cyprus: Genetic
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PDF) The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis
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Biochemical and molecular data of Cypriot family with Tay-Sachs disease.
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