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- Title
CLCN5 mutation Ser244Leu is associated with X-linked renal failure without X-linked recessive hypophosphatemic rickets.
- Authors
Kelleher, Catherine L.; Buckalew, Vardaman M.; Frederickson, Edward D.; Rhodes, Donna J.; Conner, David A.; Seidman, Jonathan G.; Seidman, Christine E.
- Abstract
Examines the incidence of X-linked renal failure without X-linked recessive hypophosphatemic rickets. Factors attributing to the differing phenotypes resulting from a gene defect. Effect of a missense mutation in the voltage gated chloride channel; Consistency of renal insufficiency with an X-linked recessive gene defect.
- Subjects
FRAGILE X syndrome; GENETIC disorders
- Publication
Kidney International, 1998, Vol 53, Issue 1, p31
- ISSN
0085-2538
- Publication type
Article
- DOI
10.1046/j.1523-1755.1998.00752.x