EFL1 deficiency: a little is better than nothing Comment

被引：1

作者：

Revy, Patrick ^{[1
]}

Donadieu, Jean ^{[2
]}

机构：

[1] Imagine Inst Genet Dis, Paris, France

[2] Hop Trousseau, Paris, France

来源：

BLOOD | 2021年 / 138卷 / 21期

关键词：

MUTATIONS; SBDS;

D O I：

10.1182/blood.2021012724

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

In this issue of Blood, Lee et al(1) identify 3 unrelated individuals with Shwachman-Diamond syndrome (SDS) with compound, pathogenic, heterozy-gous, elongation-factor-like GTPase-1 (EFL1) variants.

引用

页码：2016 / 2018

页数：3

共 9 条

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[9]

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