Two heterozygous mutations of CLDN16 in a Japanese patient with FHHNC.
about
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): compound heterozygous mutation in the claudin 16 (CLDN16) gene.Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.A novel CLDN16 mutation in a large family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis.An unusual patient with hypercalciuria, recurrent nephrolithiasis, hypomagnesemia and G227R mutation of Paracellin-1. An unusual patient with hypercalciuria and hypomagnesemia unresponsive to thiazide diuretics.CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.Biology of claudins.Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics.Hydrochlorothiazide in CLDN16 mutation.Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: a case report.
P2860
Q33371790-1197B0DD-4DED-4017-A6B6-976287D00DA1Q34542357-0AF350F4-F2BF-4562-B828-46DEE6842634Q35062887-75D83BCC-CB2C-46F2-B06F-E7D233372949Q36521140-16C6DA3F-AD8C-4C88-BB42-4127F083EEB7Q36667128-79CD137F-027A-4602-BE09-F2AFA2935FF2Q36956748-EC179122-4CDF-4C5B-B42C-E9CD06B009F2Q41996768-F753E0A0-63D8-4A10-BF05-46A80A799C53Q51811932-4B15D048-0225-46EB-B0DB-D80839D6F879Q55646837-D908B45C-3991-4993-A76E-162C07E8E6FA
P2860
Two heterozygous mutations of CLDN16 in a Japanese patient with FHHNC.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh-hant
name
Two heterozygous mutations of CLDN16 in a Japanese patient with FHHNC.
@en
Two heterozygous mutations of CLDN16 in a Japanese patient with FHHNC.
@nl
type
label
Two heterozygous mutations of CLDN16 in a Japanese patient with FHHNC.
@en
Two heterozygous mutations of CLDN16 in a Japanese patient with FHHNC.
@nl
prefLabel
Two heterozygous mutations of CLDN16 in a Japanese patient with FHHNC.
@en
Two heterozygous mutations of CLDN16 in a Japanese patient with FHHNC.
@nl
P2093
P1433
P1476
Two heterozygous mutations of CLDN16 in a Japanese patient with FHHNC.
@en
P2093
Kenji Fujieda
Toshihiro Tajima
P2888
P304
P356
10.1007/S00467-003-1304-0
P577
2003-10-30T00:00:00Z