A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus
J Santiprabhob, JE Browning, DR Repaske - Molecular genetics and …, 2002 - Elsevier
Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) is an inherited disease
caused by progressive deficiency of the hormone arginine vasopressin (AVP) that typically
becomes clinically apparent in the first decade of life. The genetic locus of ADNDI is the
arginine vasopressin-neurophysin II (AVP-NPII) gene and mutations that cause ADNDI have
been found in the nucleotides encoding the signal peptide, vasopressin, and neurophysin II
peptides. In this study we have analyzed the AVP-NPII gene in a 20-year-old female who …
caused by progressive deficiency of the hormone arginine vasopressin (AVP) that typically
becomes clinically apparent in the first decade of life. The genetic locus of ADNDI is the
arginine vasopressin-neurophysin II (AVP-NPII) gene and mutations that cause ADNDI have
been found in the nucleotides encoding the signal peptide, vasopressin, and neurophysin II
peptides. In this study we have analyzed the AVP-NPII gene in a 20-year-old female who …