Fanconi-Bickel Syndrome and Autosomal Recessive Proximal Tubulopathy with Hypercalciuria (ARPTH) Are Allelic Variants Caused by GLUT2 Mutations

CONTEXT: Many inherited disorders of calcium and phosphate homeostasis are unexplained at the molecular level. OBJECTIVE: The objective of the study was to identify the molecular basis of phosphate and calcium abnormalities in two unrelated, consanguineous families. PATIENTS: The affected members in...

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Autores principales: Mannstadt, Michael, Magen, Daniella, Segawa, Hiroko, Stanley, Takara, Sharma, Amita, Sasaki, Shohei, Bergwitz, Clemens, Mounien, Lourdes, Boepple, Paul, Thorens, Bernhard, Zelikovic, Israel, Jüppner, Harald
Formato: Artigo
Lenguaje:Inglês
Publicado: Endocrine Society 2012
Materias:
JCEM Online: Advances in Genetics
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3462928/
https://ncbi.nlm.nih.gov/pubmed/22865906
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2012-1279
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