A de novo mutation in the coding sequence for neurophysin-II (Pro24-->Leu) is associated with onset and transmission of autosomal dominant neurohypophyseal diabetes insipidus

D R Repaske, J E Browning
1994 Journal of Clinical Endocrinology and Metabolism  
doi:10.1210/jcem.79.2.8045958 pmid:8045958 fatcat:7qtyn7qqvfgvdkcdldikd4arsm