Identification and functional analysis of a novel TRPC6 mutation associated with late onset familial focal segmental glomerulosclerosis in Chinese patients

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 664, Issue 1-2, 2009, Pages 84-90

  Zhu, Bin ^a,b   Chen, Nan ^a   Wang, Zhao hui ^a   Pan, Xiao xia ^a   Ren, Hong ^a   Zhang, Wen ^a   Wang, Wei ming ^a  

^a SHANGHAI SECOND MEDICAL UNIVERSITY   (China)

^b ZHEJIANG CHINESE MEDICAL UNIVERSITY   (China)

Author keywords

ACTN4; Focal segmental glomerulosclerosis (FSGS); Missense mutation; NPHS2; Podocyte; TRPC6

Indexed keywords

ADENINE; CALCIUM; COMPLEMENTARY DNA; CYTOSINE; FLUO 3; GENOMIC DNA; GLUTAMINE; GLYCEROL DERIVATIVE; LYSINE; NUCLEOTIDE; PREDNISONE; TRANSIENT RECEPTOR POTENTIAL CHANNEL 6;

ADULT; ANALYSIS; ARTICLE; CALCIUM CELL LEVEL; CELL STRAIN HEK293; CHINESE; CLINICAL RESEARCH; COMPARATIVE STUDY; CONTROLLED STUDY; DNA EXTRACTION; DNA SEQUENCE; EMBRYO; EXON; FEMALE; FOCAL GLOMERULOSCLEROSIS; GENE AMPLIFICATION; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; LEUKOCYTE; MAJOR CLINICAL STUDY; MALE; MUTANT; NUCLEOTIDE SEQUENCE; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; SCREENING; SEQUENCE ANALYSIS; WESTERN BLOTTING; WILD TYPE;

ADULT; AGE OF ONSET; AGED; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CALCIUM; CELL LINE; CHINA; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; RECOMBINANT PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID; TRANSFECTION; TRPC CATION CHANNELS;

EID: 65049092265     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mrfmmm.2008.11.021     Document Type: Article

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