Nephronophthisis: diagnostic difficulties and recent advances in molecular genetic diagnostics.

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作者信息

Komatsuda Atsushi, Wakui Hideki

机构信息

Third Department of Internal Medicine, Akita University School of Medicine, 1-1-1 Hondo, Akita, 010-8543, Japan.

出版信息

Clin Exp Nephrol. 2005 Dec;9(4):340-342. doi: 10.1007/s10157-005-0383-6.

DOI:10.1007/s10157-005-0383-6

PMID:16362164

Abstract

摘要

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Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

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