相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea
Steven J. Shook et al.
MUSCLE & NERVE (2008)
Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia
Wouter M. Tiel Groenestege et al.
JOURNAL OF CLINICAL INVESTIGATION (2007)
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment
Rob W. J. Collin et al.
HUMAN MUTATION (2007)
The β-glucuronidase klotho hydrolyzes and activates the TRPV5 channel
Q Chang et al.
SCIENCE (2005)
Insights into the molecular nature of magnesium homeostasis
M Konrad et al.
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY (2004)
Episodic ataxia type 1 with distal weakness: A novel manifestation of a potassium channelopathy
A Klein et al.
NEUROPEDIATRICS (2004)
TRPM6 forms the Mg2+ influx channel involved in intestinal and renal Mg2+ absorption
T Voets et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays
H Matsuzaki et al.
NATURE METHODS (2004)
Endogenous KV channels in human embryonic kidney (HEK-293) cells
B Jiang et al.
MOLECULAR AND CELLULAR BIOCHEMISTRY (2002)
Modulation of renal Ca2+ transport protein genes by dietary Ca2+ and 1,25-dihydroxyvitamin D3 in 25-hydroxyvitamin D3-1α-hydroxylase knockout mice
JGJ Hoenderop et al.
FASEB JOURNAL (2002)
Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia
RY Walder et al.
NATURE GENETICS (2002)
Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family
KP Schlingmann et al.
NATURE GENETICS (2002)
Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase γ-subunit
IC Meij et al.
NATURE GENETICS (2000)
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene
S Weber et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2000)
分享论文
