A Novel Compound Heterozygous Mutation in SLC4A1 Gene Causing Severe Hereditary Spherocytosis and Distal Renal Tubular Acidosis

Tang Xue; Guo Xia; Gao Ju

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A Novel Compound Heterozygous Mutation in SLC4A1 Gene Causing Severe Hereditary Spherocytosis and Distal Renal Tubular Acidosis

机译：SLC4A1基因的新化合物杂合突变导致严重的遗传性球循环症和远端肾小管酸中毒

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来源
《Indian journal of pediatrics》 |2020年第3期|共2页
作者
Tang Xue; Guo Xia; Gao Ju;
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作者单位

West China Second Univ Hosp Dept Pediat Chengdu 610041 Peoples R China;

West China Second Univ Hosp Dept Pediat Chengdu 610041 Peoples R China;

West China Second Univ Hosp Dept Pediat Chengdu 610041 Peoples R China;

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原文格式 PDF
正文语种 eng
中图分类儿科学;
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1. A Novel Compound Heterozygous Mutation in SLC4A1 Gene Causing Severe Hereditary Spherocytosis and Distal Renal Tubular Acidosis [J] . Tang Xue, Guo Xia, Gao Ju Indian journal of pediatrics . 2020,第3期

机译：SLC4A1基因的新化合物杂合突变导致严重的遗传性球循环症和远端肾小管酸中毒
2. Distal Renal Tubular Acidosis in Filipino Children, Caused by Mutations of the Anion-Exchanger SLC4A1 (AE1, Band 3) Gene [J] . Francisco E. Anacleto, Lesley J. Bruce, Peter Clayton, Nephron . 2010,第2期

机译：菲律宾儿童远端肾小管性酸中毒，是由阴离子交换剂SLC4A1（AE1，Band 3）基因突变引起的
3. Primary Autosomal Recessive Distal Renal Tubular Acidosis Caused by a Common Homozygous SLC4A1 Mutation in Two Lao Families [J] . Park Eujin, Phaymany Vilaphone, Yi Eun Sang, Journal of Korean medical science. . 2018,第13期

机译：由两个老挝家庭常见的纯合子SLC4A1突变引起的原发性常染色体隐性远端肾小管性酸中毒。
4. Distal Renal Tubular Acidosis and Calcium Nephrolithiasis [C] . Orson W. Moe, Daniel G. Fuster, Xiao-Song Xie International Urolithiasis Research Symposium . 2008

机译：远端肾小管酸中毒和钙肾病症
5. Effects of human a3 and a4 mutations that result in osteopetrosis and distal renal tubular acidosis on yeast V-ATPase expression and activity. [D] . Ochotny, Noelle Marie. 2006

机译：导致骨质疏松和远端肾小管酸中毒的人a3和a4突变对酵母V-ATPase表达和活性的影响。
6. Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations [O] . Pa-thai Yenchitsomanus, Saranya Kittanakom, Nanyawan Rungroj, 2005

机译：SLC4A1（AE1）突变引起常染色体显性遗传和隐性远端肾小管酸中毒的分子机制
7. Compound mutations in human anion exchanger 1 are associated with complete distal renal tubular acidosis and hereditary spherocytosis [O] . Chang Yu-Hsiang, Shaw Chen-Fu, Jian Shu-Huei, 2009

机译：人类阴离子交换剂1中的复合突变与远端肾小管酸中毒和遗传性球囊增多有关

A Novel Compound Heterozygous Mutation in SLC4A1 Gene Causing Severe Hereditary Spherocytosis and Distal Renal Tubular Acidosis

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