[HTML][HTML] Dominant-negative diabetes insipidus and other endocrinopathies
JA Phillips - The Journal of clinical investigation, 2003 - Am Soc Clin Investig
JA Phillips
The Journal of clinical investigation, 2003•Am Soc Clin InvestigFamilial neurohypophyseal diabetes insipidus (FNDI) in humans is an autosomal dominant
disorder caused by a variety of mutations in the arginine vasopressin (AVP) precursor. A
new report demonstrates how heterozygosity for an AVP mutation causes FNDI (see the
related article beginning on page 1697). Using an AVP knock-in mutation in mice, the study
shows that FNDI is caused by retention of AVP precursors and progressive loss of AVP-
producing neurons.
disorder caused by a variety of mutations in the arginine vasopressin (AVP) precursor. A
new report demonstrates how heterozygosity for an AVP mutation causes FNDI (see the
related article beginning on page 1697). Using an AVP knock-in mutation in mice, the study
shows that FNDI is caused by retention of AVP precursors and progressive loss of AVP-
producing neurons.
Familial neurohypophyseal diabetes insipidus (FNDI) in humans is an autosomal dominant disorder caused by a variety of mutations in the arginine vasopressin (AVP) precursor. A new report demonstrates how heterozygosity for an AVP mutation causes FNDI (see the related article beginning on page 1697). Using an AVP knock-in mutation in mice, the study shows that FNDI is caused by retention of AVP precursors and progressive loss of AVP-producing neurons.
The Journal of Clinical Investigation