A Novel Point Mutation in the Translation Initiation Codon of the Pre-Pro-Vasopressin-Neurophysin II Gene: Cosegregation with Morphological Abnormalities and Clinical Symptoms in Autosomal Dominant Neurohypophyseal Diabetes Insipidus

Journal of Clinical Endocrinology and Metabolism

Volumn 81, Issue 1, 1996, Pages 192-198

  Rutishauser, Jonas ^a   Böni Schnetzler, Marianne ^a   Böni, Jürg ^b   Wichmann, Werner ^a   Huisman, Thierry ^a   Vallotton, Michel B ^c   Froesch, E Rudolf ^a  

^a UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c NONE   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

HORMONE PRECURSOR; NEUROPHYSIN; SIGNAL PEPTIDE; VASOPRESSIN;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DIABETES INSIPIDUS; DNA SEQUENCE; FEMALE; HUMAN; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PEDIGREE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN TRANSPORT; START CODON; TRANSCRIPTION INITIATION;

ADOLESCENT; ADULT; AGED; ARGININE VASOPRESSIN; BASE SEQUENCE; CODON; DIABETES INSIPIDUS; HUMANS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; NEUROPHYSINS; PITUITARY DISEASES; PITUITARY GLAND, POSTERIOR; POINT MUTATION; PROTEIN PRECURSORS; PROTEIN SORTING SIGNALS;

EID: 0030067123     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.81.1.8550751     Document Type: Article

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