换一批
换一批Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.
作者：
主题词
酸中毒, 肾小管性(Acidosis, Renal Tubular);青少年(Adolescent);成年人(Adult);儿童(Child);儿童, 学龄前(Child, Preschool);染色体障碍(Chromosome Disorders);染色体图(Chromosome Mapping);共病现象(Comorbidity);DNA突变分析(DNA Mutational Analysis);循证医学(Evidence-Based Medicine);女(雌)性(Female);法国(France);基因, 隐性(Genes, Recessive);疾病遗传易感性(Genetic Predisposition to Disease);基因检测(Genetic Testing);听觉丧失, 感音神经性(Hearing Loss, Sensorineural);杂合子(Heterozygote);人类(Humans);发病率(Incidence);婴儿(Infant);连锁不平衡(Linkage Disequilibrium);男(雄)性(Male);线粒体质子转运ATP酶(Mitochondrial Proton-Translocating ATPases);突变(Mutation);种系发生(Phylogeny);多态性, 单核苷酸(Polymorphism, Single Nucleotide);危险性评估(Risk Assessment);危险因素(Risk Factors)
DOI
10.1681/ASN.2005121305
PMID
16611712
发布时间
2022-03-11
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