Most SOD1 mutations are pathogenic, and their identification can lead to early access to treatment

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Most SOD1 mutations are pathogenic, and their identification can lead to early access to treatment

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de la Cruz, Elisa | Esselin, Florence | Polge, Anne | Mouzat, Kévin | Guissart, Claire

Edité par CCSD ; BMJ Publishing Group -

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Langue: en

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International audience. Objectives: To describe a family with heterozygous P67S and D91A SOD1 mutations. Methods: The ALS profile of the proband was described. SOD1 gene sequencing was performed in the proband and h...

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