Sartorato, Paola

Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism. [electronic resource] - The Journal of clinical endocrinology and metabolism Jun 2003 - 2508-17 p. digital

Publication Type: Journal Article

0021-972X

10.1210/jc.2002-021932 doi


Cohort Studies
Female
Humans
Infant
Infant, Newborn
Male
Mutation
Mutation, Missense
Pedigree
Pseudohypoaldosteronism--classification
Receptors, Mineralocorticoid--genetics
Transcription, Genetic