A Large Family with a Novel Mutation in the SCNN1A Gene Causing a Mild and Transient form of Autosomal Recessive Pseudohypoaldosteronism Type 1 (PHA1)

Alexandra Efthymiadou; Amalia Sertedaki; George Chrousos; Dionisios Chrysis

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A Large Family with a Novel Mutation in the SCNN1A Gene Causing a Mild and Transient form of Autosomal Recessive Pseudohypoaldosteronism Type 1 (PHA1)

Article 2015 en

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A Large Family with a Novel Mutation in the SCNN1A Gene Causing a Mild and Transient form of Autosomal Recessive Pseudohypoaldosteronism Type 1 (PHA1)

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A Large Consanguineous Family with a Mild and Transient form of Autosomal Recessive Pseudohypoaldosteronism type 1 (PHA1) Caused by a Novel Mutation in the SCNN1A Gene: Functional Studies

A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the <i>SCNN1A</i> gene

A Novel Point Mutation in the KCNJ5 Gene Causing Primary Hyperaldosteronism and Early-Onset Autosomal Dominant Hypertension

A Novel Point Mutation in Helix 11 of the Ligand-Binding Domain of the Human Glucocorticoid Receptor Gene Causing Generalized Glucocorticoid Resistance

A case with Mcleod syndrome associated with a novel mutation in XK gene