Gene: [16p133/MEFV] marenostrin; Mediterranean fever (recurrent polyserositis; periodic disease); [MEF FMF ]


ASS

A suggestion (Shohat-1989) that the homozygosity for one of lipocortin I (or perhaps other lipocortin) alleles accounts for familial polyserositis (Mediterranean fever) was disproved (Pras-1992)."

REF

ASS,LIN,FOG "Aksentijevich I &: AJHG, 53, 644-651, 1993a
LIN,MAP "Aksentijevich I &: AJHG, 53, N2, 451-461, 1993b
LIN "Aksentijevich I &: AJHG, 51, A181-181, 1992
LIN "Kastner &: CCG, 58, (HGM11), 2115, 1991
LOC,LIN,FOG "Pras &: New Engl J Med, 326, 1509-1513, 1992
PAT,FOG "Shohat &: Am J Med Genet, 34, 163-167, 1989
CLO,MAF "The French FMF Consortium: Nature Genet, 17, N1, 25-31, 1997

KEY

imm, mfd, derm

CLA

unknown, basic

LOC

16 p13.3

MIM

MIM: 249100

SYN

MEF FMF

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  • Gene: [16p121/CLN3] ceroid-lipofuscinosis, neuronal 3 (juvenile amaurotic family idiocy); Batten disease (neuronal ceroid-lipofuscinosis); juvenile amaurotic family idiocy (Vogt-Spielmeyer/Sjogren disease); [BTS NCL ]
  • Gene: [09q/ANX1] annexin I (lipocortin I; calpactin II; phospholipase A2 inhibitor); [p35 LPC1 ]
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