Literature summary for 3.4.24.B15 extracted from

Acar, S.; BinEssa, H.; Demir, K.; Al-Rijjal, R.; Zou, M.; Catli, G.; Anik, A.; Al-Enezi, A.; Oezisik, S.; Al-Faham, M.; Abaci, A.; Duendar, B.; Kattan, W.; Alsagob, M.; Kavukcu, S.; Tamimi, H.; Meyer, B.; Boeber, E.; Shi, Y.
Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia Novel mutations in PHEX and SLC34A3 (2018), PLoS ONE, 13, e0193388 .

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Application

Application	Comment	Organism
medicine	identification of mutations c.983_987dupCTACC, c.1586+2T>G, c.1206delA, c.436+1G>T, c.1217G>T, and g.22,215,887+-22,395,767del (179880 bp deletion including exon 16+-22 and ZNF645) in patients with hypophosphatemia. Patients with de novo PHEX mutations often have delayed diagnosis and significantly shorter in height than those who have inherited PHEX mutations. Compound heterzygous mutations in SLC34A3 are found in one patient and his asymptomatic sister: c.1335+2T>A and c.1639_1652del14	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P78562	-	-

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Release 2023.1 (January 2023)