A novel heterozygous missense mutation in the vasopressin moiety is identified in a Japanese person with neurohypophyseal diabetes insipidus

Journal of Endocrinological Investigation

Volumn 29, Issue 3, 2006, Pages 252-256

  Kobayashi, Hiromasa ^a   Fujisawa, I ^b   Ikeda, K ^a   Son, C ^a   Iwakura, T ^a   Yoshimoto, A ^a   Kasahara, M ^a   Ishihara, T ^a   Ogawa, Y ^c  

^a KOBE CITY MEDICAL CENTER GENERAL HOSPITAL   (Japan)

^b Kishiwada City Hospital   (Japan)

^c TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

AVP; Diabetes insipidus; Mutation; Neurophysin; Vasopressin

Indexed keywords

ARGIPRESSIN DERIVATIVE; NEUROPHYSIN; SERINE; TYROSINE; VASOPRESSIN;

AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLOOD ANALYSIS; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; CONTROLLED STUDY; DIABETES INSIPIDUS; DISEASE COURSE; GENE IDENTIFICATION; GENE LOCATION; GENETIC CODE; HETEROZYGOTE; HUMAN; JAPAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PEDIGREE ANALYSIS; PREDICTION; PROTEIN BINDING; PROTEIN FOLDING; URINALYSIS;

EID: 33646249391     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03345549     Document Type: Article

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