Rare phenotype of ALS4 associated with heterozygous missense mutation c.5842A > G/p.M1948V in helicase domain of <i>SETX</i> gene.

Andreini, I; Moro, F; Africa, L M; Rubegni, A; Santorelli, F M; Scarpini, C; Sicurelli, F; Battisti, C

Rare phenotype of ALS4 associated with heterozygous missense mutation c.5842A > G/p.M1948V in helicase domain of SETX gene.

Andreini, I; Moro, F; Africa, L M; Rubegni, A; Santorelli, F M; Scarpini, C; Sicurelli, F; Battisti, C.

Affiliation

Andreini I; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
Moro F; Molecular Medicine and Neurogenetics, IRCCS "Stella Maris", Pisa, Italy.
Africa LM; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
Rubegni A; Molecular Medicine and Neurogenetics, IRCCS "Stella Maris", Pisa, Italy.
Santorelli FM; Molecular Medicine and Neurogenetics, IRCCS "Stella Maris", Pisa, Italy.
Scarpini C; Unit of Neurology, Misericordia Hospital, Grosseto, Italy.
Sicurelli F; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
Battisti C; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.

Amyotroph Lateral Scler Frontotemporal Degener ; 21(3-4): 312-313, 2020 05.

Article de En | MEDLINE | ID: mdl-32186211

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Phénotype / Helicase / RNA helicases / Mutation faux-sens / Enzymes multifonctionnelles / Sclérose latérale amyotrophique Type d'étude: Risk_factors_studies Limites: Aged / Female / Humans Langue: En Journal: Amyotroph Lateral Scler Frontotemporal Degener Année: 2020 Type de document: Article Pays d'affiliation: Italie

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