VARIANT: 142680v1
Help
Entry
142680v1 Variant
Name
SLC34A3 mutation
Gene
SLC34A3
solute carrier family 34 member 3 [KO:
K14683
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
609826
Network
nt06325
Hormone/cytokine signaling
Disease
H00214
Hypophosphatemic rickets
Reference
PMID:
16358215
Authors
Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM
Title
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.
Journal
Am J Hum Genet 78:193-201 (2006)
DOI:
10.1086/499410
LinkDB
All DBs
DBGET
integrated database retrieval system