Rare phenotype of ALS4 associated with heterozygous missense mutation c.5842A > G/p.M1948V in helicase domain of SETX gene.,Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

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Rare phenotype of ALS4 associated with heterozygous missense mutation c.5842A > G/p.M1948V in helicase domain of SETX gene.
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration ( IF 2.5 ) Pub Date : 2020-03-18 , DOI: 10.1080/21678421.2020.1740271
I Andreini ₁ , F Moro ₂ , L M Africa ₁ , A Rubegni ₂ , F M Santorelli ₂ , C Scarpini ₃ , F Sicurelli ₁ , C Battisti ₁

Affiliation

(2020). Rare phenotype of ALS4 associated with heterozygous missense mutation c.5842A > G/p.M1948V in helicase domain of SETX gene. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration: Vol. 21, No. 3-4, pp. 312-313.

中文翻译：

与SETX基因解旋酶结构域的杂合错义突变c.5842A> G / p.M1948V相关的ALS4罕见表型。

（2020）。与SETX基因解旋酶结构域的杂合错义突变c.5842A> G / p.M1948V相关的ALS4罕见表型。肌萎缩性侧索硬化症和额颞变性：第一卷。21，第3-4页，第312-313页。

更新日期：2020-03-18

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