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

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 ((115)G-L-W(117)) motif in the first extracellular segment...

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Detalles Bibliográficos
Autores principales: Lu, Jingru, Zhao, Xiangzhong, Paiardini, Alessandro, Lang, Yanhua, Bottillo, Irene, Shao, Leping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6045852/
https://www.ncbi.nlm.nih.gov/pubmed/30005619
http://dx.doi.org/10.1186/s12882-018-0979-1

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