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Updated: Jul 9, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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新的误解变异导致SLC5A6相关疾病的表型谱中的中间表型

Yasuhiro Utsuno1,2, Keisuke Hamada3, Kohei Hamanaka1

  • 1Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

Journal of human genetics
|November 27, 2023
PubMed
概括

一个日本家庭的新型SLC5A6基因变异导致了新的疾病,自发地缓解了脑囊 (SRDDBC) 的发育延迟. 这种情况呈现出SMVTD和COMNB之间的现型严重程度中间,对营养疗法有反应.

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