Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town

被引：0
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作者：
Gregorio Serra
Vincenzo Antona
Maria Michela D’Alessandro
Maria Cristina Maggio
Vincenzo Verde
Giovanni Corsello
机构：
[1] University of Palermo,Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D’Alessandro”
[2] Children’s Hospital “G. Di Cristina”,Department of Pediatric Nephrology
来源：
Italian Journal of Pediatrics | / 47卷
关键词：
Pseudohypoaldosteronism; ENaC; gene; Splicing mutation; Next generation sequencing;
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