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Clinical Nephrology

Volumn 62, Issue 5, 2004, Pages 387-390

Dent's disease: Identification of a novel mutation in the renal chloride channel CLCN5

(8) Brakemeier, S a Si, H a Gollasch, M a Hoffler D a Buhl, M a Kohler R a Hoyer, J a Eichler, I a

a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN (Germany)

Author keywords

CLCN5; Dent's disease; Exon 5 deletion; Genetic analysis; Tubulopathy

Indexed keywords

CHLORIDE; CHLORIDE CHANNEL; MEMBRANE PROTEIN; PHOSPHATE; POTASSIUM; VITAMIN D;

ADULT; ANALYSIS OF VARIANCE; ARTICLE; CASE REPORT; CLINICAL FEATURE; DENT DISEASE; DIAGNOSTIC ACCURACY; EARLY DIAGNOSIS; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPERCALCIURIA; HYPOKALEMIA; KIDNEY CALCIFICATION; KIDNEY FAILURE; KIDNEY TUBULE DISORDER; MALE; MOLECULAR WEIGHT; NEPHROLITHIASIS; PROTEINURIA; RARE DISEASE; RELIABILITY; RICKETS; VITAMIN D RESISTANT RICKETS; X CHROMOSOME LINKED DISORDER;

EID: 8344242024 PISSN: 03010430 EISSN: None Source Type: Journal
DOI: 10.5414/cnp62387 Document Type: Article

Times cited : (10)

References (5)

1
- 0034891901
- X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene
- Christie PT, Harding B, Nesbit MA, Whyte MP, Thakker RV 2001 X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene. J Clin Endocrinol Metab 86: 3840-3844
- (2001) J. Clin. Endocrinol. Metab. , vol.86 , pp. 3840-3844
- Christie, P.T.¹ Harding, B.² Nesbit, M.A.³ Whyte, M.P.⁴ Thakker, R.V.⁵

2
- 0032953770
- Intrarenal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease
- Devuyst O, Christie PT, Courtoy PJ, Beauwens R, Thakker RV 1999 Intrarenal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease. Hum Mol Genet 8: 247-257
- (1999) Hum. Mol. Genet. , vol.8 , pp. 247-257
- Devuyst, O.¹ Christie, P.T.² Courtoy, P.J.³ Beauwens, R.⁴ Thakker, R.V.⁵

3
- 0031909863
- CLCN5 mutation Ser244Leu is associated with X-linked renal failure without X-linked recessive hypophosphatemic rickets
- Kelleher CL, Buckalew VM, Frederickson ED, Rhodes DJ, Conner DA, Seidman JG, Seidman CE 1998 CLCN5 mutation Ser244Leu is associated with X-linked renal failure without X-linked recessive hypophosphatemic rickets. Kidney Int 53: 31-37
- (1998) Kidney Int. , vol.53 , pp. 31-37
- Kelleher, C.L.¹ Buckalew, V.M.² Frederickson, E.D.³ Rhodes, D.J.⁴ Conner, D.A.⁵ Seidman, J.G.⁶ Seidman, C.E.⁷

4
- 0034001447
- Isolated hypercalciuria with mutation in CLCN5: Relevance to idiopathic hypercalciuria
- Scheinman SJ, Cox JP, Lloyd SE, Pearce SH, Salenger PV, Hoopes RR, Bushinsky DA, Wrong O, Asplin JR, Langman CB, Norden AG, Thakker RV 2000 Isolated hypercalciuria with mutation in CLCN5: relevance to idiopathic hypercalciuria. Kidney Int 57: 232-239
- (2000) Kidney Int. , vol.57 , pp. 232-239
- Scheinman, S.J.¹ Cox, J.P.² Lloyd, S.E.³ Pearce, S.H.⁴ Salenger, P.V.⁵ Hoopes, R.R.⁶ Bushinsky, D.A.⁷ Wrong, O.⁸ Asplin, J.R.⁹ Langman, C.B.¹⁰ Norden, A.G.¹¹ Thakker, R.V.¹²

5
- 0033918190
- Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis
- Thakker RV 2000 Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis. Kidney Int 57: 787-793
- (2000) Kidney Int. , vol.57 , pp. 787-793
- Thakker, R.V.¹

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.