Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.

BACKGROUND/AIMS: Dent's disease is caused by mutations in the chloride/proton antiporter, CLC-5, or oculo-cerebro-renal-syndrome-of-Lowe (OCRL1) genes. METHODS: Eighteen probands with Dent's disease were investigated for mutations in CLC-5 and two of its interacting proteins, CLC-4 and cof...

पूर्ण विवरण

ग्रंथसूची विवरण
मुख्य लेखकों: Wu, F, Reed, A, Williams, SE, Loh, N, Lippiat, J, Christie, P, Large, O, Bettinelli, A, Dillon, M, Goldraich, N, Hoppe, B, Lhotta, K, Loirat, C, Malik, R, Morel, D, Kotanko, P, Roussel, B, Rubinger, D, Schrander-Stumpel, C, Serdaroglu, E, Nesbit, M, Ashcroft, F, Thakker, R
स्वरूप: Journal article
भाषा:English
प्रकाशित: 2009