机译:单次突变到DNAJB11引起非典型常染色体占优势多囊肾病
Division of Nephrology and Hypertension Mayo Clinic;
Department of Biochemistry and Molecular Biology Mayo Clinic;
Section of Nephrology Yale School of Medicine;
Division of Nephrology and Hypertension Mayo Clinic;
Division of Nephrology and Hypertension Mayo Clinic;
Division of Nephrology and Hypertension Mayo Clinic;
Department of Molecular Genetics National Institute of Health and Medical Sciences;
Division of Renal Diseases and Hypertension University of Colorado Denver Anschutz Medical Campus;
Division of Nephrology and Hypertension Mayo Clinic;
Division of Nephrology University Health Network;
Division of Biomedical Statistics and Informatics Mayo Clinic;
Division of Nephrology and Hypertension Mayo Clinic;
Division of Nephrology and Hypertension Mayo Clinic;
Division of Nephrology and Hypertension Mayo Clinic;
Department of Molecular Genetics National Institute of Health and Medical Sciences;
Service of Nephrology Necker Hospital;
Division of Nephrology University of Liège;
Service of Nephrology and Hemodialysis;
Service of Nephrology Yves Le Foll Hospital;
Service of Nephrology Yves Le Foll Hospital;
Kidney Institute University of Kansas Medical Center;
Department of Medical Imaging University Health Network;
Division of Nephrology University Health Network;
Section of Nephrology Yale School of Medicine;
Department of Nephrology University Hospital European University of Brittany;
Division of Nephrology and Hypertension Mayo Clinic;
Division of Nephrology and Hypertension Mayo Clinic;
ADPKD; ADPLD; ADTKD; DNAJB11; renal cystic disease; pathogenic variants;
机译:单次突变到DNAJB11引起非典型常染色体占优势多囊肾病
机译:中国常染色体显性多囊肾疾病患者基因突变与临床表型的系统分析
机译:切割多囊藻蛋白1需要蛋冻域的受体,并被人类常染色体显性多囊肾疾病1相关突变所破坏。
机译:常染色体显性多囊性肾脏病患者的磁共振图像肾脏检测与分割
机译:常染色体显性遗传性多囊性肾脏疾病的肾脏分割和图像分析
机译:DNAJB11的单等位基因突变导致非典型的常染色体显性多囊肾病。
机译:GANAB中的突变,编码葡萄糖苷酶IIα亚基,导致常染色体显性多囊肾和肝病。
机译:在常染色体显性多囊肾病小鼠模型中体内诱导体细胞pkd1突变。