Associated Papers
Familial neurohypophyseal diabetes insipidus: clinical, genetic and functional studies of novel mutations in the arginine vasopressin gene.
Alvelos MI et al.
Pituitary, 2021
Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus-benefit of genetic testing.
Hrčková G et al.
European Journal of Pediatrics, 2016
Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology.
Bichet DG et al.
Clinical Kidney Journal, 2012
Rapid detection of the two most common CLN2 mutations causing classical late infantile neuronal ceroid lipofuscinosis.
Bodzioch M et al.
Clinical Chemistry, 2000
Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation.
Siggaard C et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
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