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...
Үндсэн зохиолчид: | Scheinman, S, Pook, M, Wooding, C, Pang, J, Frymoyer, P, Thakker, R |
---|---|
Формат: | Journal article |
Хэл сонгох: | English |
Хэвлэсэн: |
1993
|
Ижил төстэй зүйлс
Ижил төстэй зүйлс
-
LOCALIZATION OF THE GENE CAUSING X-LINKED RECESSIVE NEPHROLITHIASIS TO THE SHORT ARM OF THE X-CHROMOSOME (XP11.22)
-н: Scheinman, S, зэрэг
Хэвлэсэн: (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
-н: Thakker, R, зэрэг
Хэвлэсэн: (1994) -
Characterization of carrier females and affected males with X-linked recessive nephrolithiasis.
-н: Reinhart, S, зэрэг
Хэвлэсэн: (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)
-н: Thakker, R, зэрэг
Хэвлэсэн: (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.
-н: Pook, M, зэрэг
Хэвлэсэн: (1993)