Concepedia

CLCN5 mutation Ser244Leu is associated with X-linked renal failure without X-linked recessive hypophosphatemic rickets

Catherine L. Kelleher, Vardaman M. Buckalew, Edward D. Frederickson, Donna J. Rhodes, David A. Conner, Jonathan G. Seidman, Christine E. Seidman

Kidney International · 1998 · 41 citations · 16 references

DOIFull text

Open access

Concepts

References

16

A common molecular basis for three inherited kidney stone diseases

Sarah E. Lloyd, Simon H. S. Pearce, Simon E. Fisher et al. · Nature · 1996 · 726 citations · Full text

, , +14

Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance

Oliver Wrong, Anthony G.W. Norden, Terry Feest · QJM · 1994 · 301 citations

, , +13

Cloning and Functional Expression of Rat CLC-5, a Chloride Channel Related to Kidney Disease

Klaus Steinmeyer, Blanche Schwappach, Marcelle Bens et al. · Journal of Biological Chemistry · 1995 · 277 citations · Full text

, , +16

A molecular basis for familial hypertrophic cardiomyopathy: An αβ cardiac myosin heavy chain hybrid gene

G Tanigawa, John A. Jarcho, Susan Kass et al. · Cell · 1990 · 223 citations

, , +11

X-Linked Recessive Nephrolithiasis with Renal Failure

Paul A. Frymoyer, Steven J. Scheinman, Philip B. Dunham et al. · New England Journal of Medicine · 1991 · 161 citations

, , +14