Identification of novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease by targeted next-generation sequencing

Clinica Chimica Acta

Volumn 433, Issue , 2014, Pages 12-19

  Yang, Tao ^a   Meng, Yan ^a   Wei, Xiaoming ^b   Shen, Jiandong ^c   Zhang, Mingrong ^b   Qi, Chen ^a   Wang, Chundan ^a   Liu, Jiayin ^c   Ma, Minrui ^a   Huang, Shangzhi ^a  

^a INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

^b BGI SHENZHEN   (China)

^c NANJING MEDICAL UNIVERSITY   (China)

Author keywords

ADPKD; Mutation; PKD1; Targeted next generation sequencing

Indexed keywords

POLYCYSTIN 1; POLYCYSTIN 2; POLYCYSTIC KIDNEY DISEASE 1 PROTEIN; POLYCYSTIN; PROTEIN KINASE; PROTEIN KINASE D2;

ADULT; ARTICLE; BIOINFORMATICS; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; GENE REPLICATION; GENE SEQUENCE; GENE TARGETING; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; KIDNEY POLYCYSTIC DISEASE; MALE; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; NONSENSE MUTATION; PEDIGREE ANALYSIS; PKD1 GENE; PKD2 GENE; PRIORITY JOURNAL; ANIMAL; ASIAN CONTINENTAL ANCESTRY GROUP; BIOLOGY; CHEMICAL STRUCTURE; CHEMISTRY; GENETICS; HIGH THROUGHPUT SEQUENCING; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; PROTEIN TERTIARY STRUCTURE; YOUNG ADULT;

ADULT; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; PROTEIN KINASES; PROTEIN STRUCTURE, TERTIARY; TRPP CATION CHANNELS; YOUNG ADULT;

EID: 84896136429     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2014.02.011     Document Type: Article

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