Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: Utility and limitations

Gene

Volumn 516, Issue 1, 2013, Pages 93-100

  Qi, Xiao Ping ^a   Du, Zhen Fang ^b   Ma, Ju Ming ^a   Chen, Xiao Ling ^b   Zhang, Qing ^c   Fei, Jun ^a   Wei, Xiao Ming ^c   Chen, Dong ^d   Ke, Hai Ping ^e   Liu, Xuan Zhu ^c   Li, Feng ^a   Chen, Zhen Guang ^a   Su, Zheng ^c   Jin, Hang Yang ^a   Liu, Wen Ting ^b   Zhao, Yan ^b   Jiang, Hu Ling ^b   Lan, Zhang Zhang ^c   Li, Peng Fei ^c   Fang, Ming Yan ^c   Dong, Wei ^c   Zhang, Xian Ning ^b   more..

^a The 117th PLA Hospital   (China)

^b ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^c BGI SHENZHEN   (China)

^d UNIVERSITY OF LIVERPOOL   (United Kingdom)

^e Ningbo College of Health Sciences   (China)

Author keywords

Autosomal dominant polycystic kidney disease; Genetic diagnosis; PKD1 gene; PKD2 gene; Targeted DNA HiSeq; Whole exome sequencing

Indexed keywords

CREATININE; GENOMIC DNA;

ADULT; AMINO ACID SUBSTITUTION; AMPLICON; ARTICLE; BACKACHE; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; CREATININE BLOOD LEVEL; DIAGNOSTIC ACCURACY; DNA BASE COMPOSITION; DNA SEQUENCE; ECHOGRAPHY; EXOME; FALSE POSITIVE RESULT; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC SCREENING; HISTOPATHOLOGY; HUMAN; HYPERTENSION; KIDNEY CYST; KIDNEY POLYCYSTIC DISEASE; LIVER CYST; MALE; MEDICAL HISTORY; MOLECULAR DIAGNOSTICS; PATHOGENICITY; PKD1 GENE; PKD2 GENE; PNEUMOPERITONEUM; PRIORITY JOURNAL; SCLEROTHERAPY;

ADULT; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; EXONS; GENETIC TESTING; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; TRPP CATION CHANNELS;

EID: 84873078228     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.12.060     Document Type: Article

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