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

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

Abstract Background Sixty mutations of claudin 16 coding gene have been reported in familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) patients. Recent investigations revealed that a highly conserved glycine-leucine-tryptophan (115G-L-W117) motif in the first extracellular segm...

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Bibliographic Details
Main Authors: Jingru Lu, Xiangzhong Zhao, Alessandro Paiardini, Yanhua Lang, Irene Bottillo, Leping Shao
Format: Article
Language:English
Published: BMC 2018-07-01
Series:BMC Nephrology
Subjects:
Familial hypomagnesaemia with Hypercalciuria and Nephrocalcinosis
Claudin 16
Mutation
Highly conserved motif
Online Access:http://link.springer.com/article/10.1186/s12882-018-0979-1

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http://link.springer.com/article/10.1186/s12882-018-0979-1

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