A new PKD1 mutation discovered in a chinese family with autosomal polycystic kidney disease

Kidney and Blood Pressure Research

Volumn 39, Issue 1, 2014, Pages 1-8

  Wang, Zhendi ^a   Wang, Yang ^a   Xiong, Jing ^a  

^a HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

Author keywords

Autosomal polycystic kidney disease; Frame shift mutation; Gene screening; PKD gene

Indexed keywords

CREATININE; DNA; HEMOGLOBIN; POLYCYSTIC KIDNEY DISEASE 1 PROTEIN; POLYCYSTIN; AMINO ACID; GENOMIC DNA; POLYCYSTIN 1; POLYCYSTIN 2;

ADULT; ARTICLE; AUTOSOMAL POLYCYSTIC KIDNEY DISEASE; BLOOD SAMPLING; CASE REPORT; CHINESE; CONTROLLED STUDY; CREATININE BLOOD LEVEL; DNA EXTRACTION; EXON; GENE; GENE MUTATION; GLOMERULUS FILTRATION RATE; HEMOGLOBIN BLOOD LEVEL; HUMAN; KIDNEY POLYCYSTIC DISEASE; MALE; POLYCYSTIN 1 GENE; POLYCYSTIN 2 GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; ASIAN CONTINENTAL ANCESTRY GROUP; DNA SEQUENCE; ETHNOLOGY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENETICS; MIDDLE AGED; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; 3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ABDOMINAL MASS; FLANK PAIN; GENE IDENTIFICATION; GENETIC POLYMORPHISM; KIDNEY CYST; KIDNEY FAILURE; NEXT GENERATION SEQUENCING; PATHOGENESIS; RESISTANT HYPERTENSION; UREMIA;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; EXONS; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; TRPP CATION CHANNELS;

EID: 84899781332     PISSN: 14204096     EISSN: 14230143     Source Type: Journal    
DOI: 10.1159/000355772     Document Type: Article

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