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Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene

机译：延伸加洛韦 - 莫马特综合征的突变谱，包括WDR73基因中的纯合物畸形突变

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Rasim O. Rosti; Esra Dikoglu; Maha S. Zaki; Ghada Abdel-Salam; Nawal Makhseed; Jordan C. Sese; Damir Musaev; Basak Rosti; Mary J. Harbert; Marilyn C. Jones; Keith K. Vaux; Joseph G. Gleeson;
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1. Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene [J] . Rosti Rasim O., Dikoglu Esra, Zaki Maha S., American journal of medical genetics, Part A . 2016,第4期

机译：扩展Galloway-Mowat综合征的突变谱，使其在WDR73基因中包含纯合错义突变
2. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73 [J] . Jinks Robert N., Puffenberger Erik G., Baple Emma, Brain: A journal of neurology . 2015,第8期

机译：Galloway-Mowat综合征谱系上的隐性小脑肾综合征是由WDR73的纯合蛋白截断突变引起的
3. Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome [J] . Colin Estelle, Cong Evelyne Huynh, Mollet Geraldine, The American Journal of Human Genetics . 2014,第6期

机译：WDR73中的功能丧失突变对小头畸形和类固醇抵抗性肾病综合征负责：盖洛韦-莫瓦特综合征
4. The Spectrum of SCN5A Gene Mutations in Singapore Brugada Syndrome Patients [C] . Rita Yu Yin Yong, BY. Tan, LSH. Gan, International Molecular Medicine Tri-Conference. . 2016

机译：新加坡巴鲁达综合征患者SCN5A基因突变的谱
5. Homozygous protein C deficiency: identification of a novel missense mutation that causes impaired secretion of the mutant protein C [D] . Yamamoto Koji, Matsushita Tadashi, Sugiura Isamu, 1992

机译：纯合蛋白C缺乏症：鉴定导致突变蛋白C分泌受损的新型错义突变
6. Extending the Mutation Spectrum for Galloway–Mowat Syndrome to Include Homozygous Missense Mutations in the WDR73 Gene [O] . Rasim O. Rosti, Esra Dikoglu, Maha S. Zaki, -1

机译：扩展盖洛韦-莫瓦特综合征的突变谱以在WDR73基因中包括纯合子错义突变
7. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73 [O] . Jinks, R.N., Puffenberger, E.G., Baple, E., 2015

机译：Galloway-mowat综合征谱中的隐性肾小球综合征是由WDR73的纯合蛋白截短突变引起的

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene

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