Identification of a novel mutation in the arginine vasopressin-neurophysin II gene affecting the sixth intrachain disulfide bridge of the neurophysin II moiety

European Journal of Endocrinology

Volumn 151, Issue 5, 2004, Pages 605-611

  Baglioni, Silvana ^a   Corona, Giovanni ^a   Maggi, Mario ^a   Serio, Mario ^a   Peri, Alessandro ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARGIPRESSIN; DESMOPRESSIN; DISULFIDE; DNA; HORMONE PRECURSOR; NEUROPHYSIN; SODIUM CHLORIDE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLINICAL EXAMINATION; DIABETES INSIPIDUS; DISEASE DURATION; ENDOCRINE FUNCTION TEST; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; NEUROHYPOPHYSEAL DIABETES INSIPIDUS; NEUROHYPOPHYSIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PERIPHERAL LYMPHOCYTE; POLYDIPSIA; POLYURIA; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN LOCALIZATION; PROTEIN STRUCTURE; SEQUENCE ANALYSIS; STRUCTURE ANALYSIS; THREE DIMENSIONAL IMAGING;

ADULT; ARGININE VASOPRESSIN; BASE SEQUENCE; DEAMINO ARGININE VASOPRESSIN; DIABETES INSIPIDUS, NEUROGENIC; DRINKING BEHAVIOR; FEMALE; HUMANS; MOLECULAR STRUCTURE; MUTATION; NEUROPHYSINS; OXYTOCIN; PEDIGREE; POLYURIA; PROTEIN PRECURSORS; RENAL AGENTS;

EID: 9444283785     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.0.1510605     Document Type: Article

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