FGF23–S129F mutant bypasses ER/Golgi to the circulation of hyperphosphatemic familial tumoral calcinosis patients
Author:
Funder
Arabian Gulf University
Publisher
Elsevier BV
Subject
Histology,Physiology,Endocrinology, Diabetes and Metabolism
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3. Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification;Sprecher;J. Invest. Dermatol.,2010
4. Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis;Topaz;Nat. Genet.,2004
5. An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia;Benet-Pages;Hum. Mol. Genet.,2005
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