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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Hlavní autoři:	Jingru Lu, Xiangzhong Zhao, Alessandro Paiardini, Yanhua Lang, Irene Bottillo, Leping Shao
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2018-07-01
Edice:	BMC Nephrology
Témata:	Familial hypomagnesaemia with Hypercalciuria and Nephrocalcinosis Claudin 16 Mutation Highly conserved motif
On-line přístup:	http://link.springer.com/article/10.1186/s12882-018-0979-1
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