A novel SLC12A3 splicing mutation skipping of two exons and preliminary screening for alternative splice variants in human kidney

American Journal of Nephrology

Volumn 28, Issue 6, 2008, Pages 900-907

  Shao, Leping ^a,b   Liu, Liqiu ^a   Miao, Zhimin ^a   Ren, Hong ^b   Wang, Weiming ^b   Lang, Yanhua ^a   Yue, Shaoheng ^a   Chen, Nan ^b,c  

^a QINGDAO UNIVERSITY MEDICAL COLLEGE   (China)

^b SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^c NONE   (China)

Author keywords

Gitelman's syndrome; Mental retardation; SLC12A3; Splice mutation; Two exon skip

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; SODIUM CHLORIDE COTRANSPORTER;

ALTERNATIVE RNA SPLICING; ARTICLE; CASE REPORT; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA DETERMINATION; EXON; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC VARIABILITY; GITELMAN SYNDROME; GROWTH RETARDATION; HUMAN; INTRON; KIDNEY; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; EXONS; HUMANS; INTRONS; KIDNEY; MALE; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RECEPTORS, DRUG; SYMPORTERS;

EID: 53549133936     PISSN: 02508095     EISSN: None     Source Type: Journal    
DOI: 10.1159/000141932     Document Type: Article

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