Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia

Familial hypocalciuric hypercalcemia type I is an autosomal dominant disorder caused by heterozygous loss-of-function mutations in the CASR gene and is characterized by moderately elevated serum calcium concentrations, low urinary calcium excretion and inappropriately normal or mildly elevated parat...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Endocrinol Diabetes Metab Case Rep
Egile Nagusiak: García-Castaño, Alejandro, Madariaga, Leire, Azriel, Sharona, Pérez de Nanclares, Gustavo, Martínez de LaPiscina, Idoia, Martínez, Rosa, Urrutia, Inés, Aguayo, Aníbal, Gaztambide, Sonia, Castaño, Luis
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Bioscientifica Ltd 2018
Gaiak:
Insight into Disease Pathogenesis or Mechanism of Therapy
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6280130/
https://ncbi.nlm.nih.gov/pubmed/30530875
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-18-0114
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