Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.
X-linked recessive nephrolithiasis is associated with kidney stones and renal tubular dysfunction in childhood progressing to renal failure in adulthood. The primary defect causing this renal tubular disorder is unknown and determining the chromosomal location of the mutant gene would represent an i...
Main Authors: | Scheinman, S, Pook, M, Wooding, C, Pang, J, Frymoyer, P, Thakker, R |
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פורמט: | Journal article |
שפה: | English |
יצא לאור: |
1993
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פריטים דומים
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LOCALIZATION OF THE GENE CAUSING X-LINKED RECESSIVE NEPHROLITHIASIS TO THE SHORT ARM OF THE X-CHROMOSOME (XP11.22)
מאת: Scheinman, S, et al.
יצא לאור: (1992) -
MAPPING OF 2 HEREDITARY RENAL TUBULAR DISORDERS ASSOCIATED WITH KIDNEY-STONES, AND REFERRED TO AS DENT-DISEASE AND X-LINKED RECESSIVE NEPHROLITHIASIS, TO CHROMOSOME-XP11
מאת: Thakker, R, et al.
יצא לאור: (1994) -
Characterization of carrier females and affected males with X-linked recessive nephrolithiasis.
מאת: Reinhart, S, et al.
יצא לאור: (1995) -
THE GENE CAUSING DENTS DISEASE, A RENAL FANCONI SYNDROME WITH NEPHROCALCINOSIS AND KIDNEY-STONES, IS ON THE SHORT ARM OF THE X-CHROMOSOME (XP11.22)
מאת: Thakker, R, et al.
יצא לאור: (1993) -
Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22.
מאת: Pook, M, et al.
יצא לאור: (1993)