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...
主要な著者: | Scheinman, S, Pook, M, Wooding, C, Pang, J, Frymoyer, P, Thakker, R |
---|---|
フォーマット: | Journal article |
言語: | English |
出版事項: |
1993
|
類似資料
-
LOCALIZATION OF THE GENE CAUSING X-LINKED RECESSIVE NEPHROLITHIASIS TO THE SHORT ARM OF THE X-CHROMOSOME (XP11.22)
著者:: Scheinman, S, 等
出版事項: (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
著者:: Thakker, R, 等
出版事項: (1994) -
Characterization of carrier females and affected males with X-linked recessive nephrolithiasis.
著者:: Reinhart, S, 等
出版事項: (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)
著者:: Thakker, R, 等
出版事項: (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.
著者:: Pook, M, 等
出版事項: (1993)