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A novel GLA mutation in a Korean boy with an early cardiac manifestation of Fabry disease

机译：韩国男孩的一种新型Gla突变，具有皮带病的早期心脏表现

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Soonhak Kwon; Jin-Sung Park; Jae Hun Jung; Su Kyeong Hwang; Yeo Hyang Kim; Yun Jeong Lee;
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1. Correction: Fabry disease due to D313Y and novel GLA mutations,Fabry disease due to D313Y and novel GLA mutations [J] . BMJ Open . 2018,第3期

机译：更正：D313Y和新的GLA突变引起的法布里疾病，D313Y和新的GLA突变引起的法布里疾病
2. Fabry disease due to D313Y and novel GLA mutations,Correction: Fabry disease due to D313Y and novel GLA mutations [J] . Matthaios Speletas, Eleni Manou, Gedeon Loules, BMJ Open . 2017,第10期

机译：由于D313Y和新的GLA突变而导致的法布里病，更正：由于D313Y和新的GLA突变而导致的法布里病
3. Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns. [J] . Lee BH, Heo SH, Kim GH, Journal of human genetics . 2010,第8期

机译：韩国法布里病患者的GLA基因突变和韩国新生儿功能性变异的E66Q等位基因频率。
4. Sarcomere protein gene mutations and inherited heart disease: a beta-cardiac myosin heavy chain mutation causing endocardial fibroelastosis and heart failure [C] . Mitsuhiro Kamisago, Joachim P. Schmitt, Dennis McNamara, Symposium on heart failure: Molecules, mechanisms and therapeutic targets . 2006

机译：Sarcomere蛋白质基因突变和遗传性心脏病：β-心肌肌苷重链突变导致心内膜肌肌瘤和心力衰竭
5. Modifier genes in the phenotypic manifestation of primary disease-causing mutations. [D] . Shankar, Suma Prabhu. 2005

机译：在原发性疾病突变的表型表现中的修饰基因。
6. Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey [O] . Jin-Ho Choi, Beom Hee Lee, Sun Hee Heo, -1

机译：一项全国性调查显示韩国法布里病患者GLA的临床特征和突变谱
7. Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey [O] . Jin-Ho Choi, Beom Hee Lee, Sun Hee Heo, 2017

机译：全国范围调查韩国法布里疾病患者GLA临床特征及突变谱

A novel GLA mutation in a Korean boy with an early cardiac manifestation of Fabry disease

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