Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families

Journal of Clinical Endocrinology and Metabolism

Volumn 85, Issue 4, 2000, Pages 1703-1710

  Pasel, K ^a   Schulz, A ^a   Timmermann, K ^a   Linnemann, K ^a   Hoeltzenbein, M ^a   Jaaskelainen J ^a   Gruters A ^a   Filler, G ^a   Schoneberg T ^a  

^a FREIE UNIVERSITÄT BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; OXYTOCIN RECEPTOR; VASOPRESSIN RECEPTOR;

AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; BINDING AFFINITY; CLINICAL ARTICLE; DIABETES MELLITUS; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; GENE EXPRESSION; GENE MUTATION; HUMAN; MALE; MISSENSE MUTATION; NEPHROGENIC DIABETES INSIPIDUS; NONHUMAN; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RECEPTOR BINDING; X CHROMOSOME LINKED DISORDER;

AMINO ACID SEQUENCE; ANIMALS; AQUAPORIN 2; AQUAPORIN 6; AQUAPORINS; ARGININE VASOPRESSIN; CHILD; CHILD, PRESCHOOL; COS CELLS; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DIABETES INSIPIDUS, NEPHROGENIC; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; MUTATION; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; RECEPTORS, VASOPRESSIN; SEQUENCE ALIGNMENT; TRANSFECTION; X CHROMOSOME;

ANIMALIA;

EID: 0034457168     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.85.4.1703     Document Type: Article

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