Associated Papers
Mutations in an unrecognized internal NPT2A PDZ motif disrupt phosphate transport and cause congenital hypophosphatemia.
Sneddon WB et al.
The Biochemical Journal, 2023
Mutations in an unrecognized internal NPT2A PDZ motif disrupt phosphate transport causing congenital hypophosphatemia.
Sneddon WB et al.
Biorxiv : the Preprint Server for Biology, 2023
Infantile hypercalcemia with novel compound heterozygous mutation in SLC34A1 encoding renal sodium-phosphate cotransporter 2a: a case report.
Kang SJ et al.
Annals of Pediatric Endocrinology & Metabolism, 2019
Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.
Rajagopal A et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
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