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)

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)

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	Thakker, R, Pook, M, Wooding, C, Norden, A, Feest, T, Wrong, O
Μορφή:	Journal article
Έκδοση:	1993

Παρόμοια τεκμήρια

Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22.
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Έκδοση: (1993)

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
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LOCALIZATION OF THE GENE CAUSING X-LINKED RECESSIVE NEPHROLITHIASIS TO THE SHORT ARM OF THE X-CHROMOSOME (XP11.22)
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Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.
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Dent's disease.
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Renal chloride channel, CLCN5, mutations in Dent's disease.
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Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report
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YAC MAPPING OF THE WISKOTT-ALDRICH SYNDROME LOCUS IN XP11.31-]P11.22
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Dent's disease
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Recurrent fever of unknown origin and unexplained bacteremia in a patient with a novel 4.5 Mb microdeletion in Xp11.23-p11.22
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