Gene: [0Xp22/PHEX] phosphate regulating gene with homologies to endopeptidases on the X chromosome; phosphate regulating endopeptidase homolog, X-linked (PEX); hypophosphatemia, vitamin D resistant rickets I;
REF | CLO,SEQ,MUT,MOU "Beck L &: J Clin Invest, 99, N6, 1200-1209,
1997 MUT,REV "Econs MJ &: Am J Physiol, 273, N4 (Part 2), F489-498, 1997 CLO,SEQ,GEN,FUN "Francis F &: Genome Res, 7, N6, 573-585, 1997 CLO,SEQ "Francis F &: Nature Genet, 11, 130-136, 1995 CLO,SEQ "Grieff M &: BBRC, 231, 635-639, 1997 CLO,SEQ "Guo R, Quarles LD: J Bone Miner Res, 12, 1009-1017, 1997 CLO,SEQ,GEN,MUT "Holm IA &: AJHG, 60, N4, 790-797, 1997 MAP "Machler M &: Hum Genet, 73, 271-275, 1986 PAT "Nehgme R &: J Clin Endocrinol Metab, 82, N8, 2450-2454, 1997 MAP "Read AP &: Hum Genet, 73, 267-270, 1986 MUT "Rowe PS &: Hum Mol Genet, 6, N4, 539-549, 1997 MOU,MUT,MOD "Strom TM &: Hum Mol Genet, 6, N2, 165-171, 1997 POL "Thakker RV &: CCG, 46, (HGM9), 703-704, 1987a MAP "Thakker RV &: J Med Genet, 24, 756-760, 1987b TER "Verge CF &: New Engl J Med, 325, N26, 1843-1848, 1991 |
SWI | SWISSPROT: P78562 |
KEY | bone, horm, vit, ion, mtbd |
CLA | coding, basic |
LOC | 0X p22.2-.1 |
MIM | MIM: 307800 |
EZN | ENZYME: 3.4.24.? |
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