Tài liệu tham khảo |
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Chi tiết |
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Tiêu đề: |
Clin Chem Lab Med |
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16. Simon DB, Bindra RS, Mansfield TA, et al.: Mutations in the chloride channel gene, CLCNKB, cause Bartter’s syndrome type III. Nat Genet 17:171–178, 1997 |
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18. Alconcher LF, Castro C, Quintana D, et al.: Urinary calcium excretion in healthy school children.Pediatr Nephrol 11:186–188, 1997 |
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19. Matos V, van Melle G, Boulat O, et al.: Urinary phosphate/creatinine, calcium/creatinine, and magne- sium/creatinine ratios in a healthy pediatric population. J Pediatr 131:252–257, 1997 |
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20. Cheek DB, Perry JW: A salt wasting syndrome in infancy. Arch Dis Child 33:252–256, 1958 21. Chang SS, Grunder S, Hanukoglu A, et al.: Mutations in subunits of the epithelial sodium chan-nel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nat Genet 12:248–253, 1996 |
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Tiêu đề: |
Arch Dis Child "33:252–256, 195821. Chang SS, Grunder S, Hanukoglu A, et al.: Mutations in subunits of the epithelial sodium chan-nel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. "Nat Genet |
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22. Grunder S, Firsov D, Chang SS, et al.: A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel. Embo J 16:899–907, 1997 |
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23. Strautnieks SS, Thompson RJ, Gardiner RM, et al.: A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families. Nat Genet 13:248–250, 1996 |
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