Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability. [electronic resource]
Producer: 20190514Description: 808-816 p. digitalISSN:- 1537-6605
- Child
- Child, Preschool
- Female
- Germ Cells
- Heterozygote
- Homeostasis -- genetics
- Humans
- Infant
- Infant, Newborn
- Intellectual Disability -- genetics
- Kidney -- pathology
- Magnesium -- metabolism
- Male
- Mutation -- genetics
- Phenotype
- Protein Isoforms -- genetics
- Renal Tubular Transport, Inborn Errors -- genetics
- Seizures -- genetics
- Sodium-Potassium-Exchanging ATPase -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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