AVPR2 variants and mutations in nephrogenic diabetes insipidus: Review and missense mutation significance

Journal of Cellular Physiology

Volumn 217, Issue 3, 2008, Pages 605-617

  Spanakis, Elias ^a,b   Milord, Edrice ^c   Gragnoli, Claudia ^a,b,d,e  

^a PENN STATE MILTON S HERSHEY MEDICAL CENTER   (United States)

^b PENN STATE COLLEGE OF MEDICINE   (United States)

^c CNRS   (France)

^d Temple University   (United States)

^e Bios Biotech Multi Diagnostic Health Center   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; ARGIPRESSIN RECEPTOR; ARGIPRESSIN RECEPTOR 2; GLUTAMIC ACID; TYROSINE; UNCLASSIFIED DRUG; VASOPRESSIN RECEPTOR;

AMINO ACID SUBSTITUTION; AVPR2 GENE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENE LOCATION; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HUMAN CELL; IN VITRO STUDY; INFRAME DELETION; MISSENSE MUTATION; NEPHROGENIC DIABETES INSIPIDUS; NONSENSE MUTATION; PRIORITY JOURNAL; REVIEW; RNA SPLICING; SEQUENCE HOMOLOGY; AMINO ACID SEQUENCE; CHEMISTRY; CODON; GENETICS; META ANALYSIS; MOLECULAR GENETICS; MUTATION;

AMINO ACID SEQUENCE; CODON; DIABETES INSIPIDUS, NEPHROGENIC; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; RECEPTORS, VASOPRESSIN;

EID: 54049133334     PISSN: 00219541     EISSN: None     Source Type: Journal    
DOI: 10.1002/jcp.21552     Document Type: Review

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