Gene: [0Xq25/IMD5] SH2 domain protein 1A; Lymphoproliferative syndrome (Duncan's disease); immunodeficiency 5 (lymphoproliferative Duncan's disease); infectious mononucleosis, susceptibility to (immunodeficiency-5); Epstein-Barr infection, familial fatal, susceptibility to; [XLPD EBVS LYP ]


REF

CLO,SEQ,MUT "Coffey AJ &: Nature Genet, 20, N2, 129-135, 1998
LIN,LOC "Harris A &: Clin Genet, 33, 162-168, 1988
LIN,LOC "Hayoz D &: Am J Med, 84, 529-534, 1988
MUT "Nichols KE &: PNAS, 95, N23, 13765-13770, 1998
CLO,SEQ,FUN "Sayos J &: Nature, 395, N6701, 462-469, 1998
LOC,MUT "Skare JC &: Genomics, 16, 254-255, 1993
PND "Skare JC &: Am J Med Genet, 44, 79-81, 1992
LIN,LOC "Skare JC &: AJHG, 45, A161-161, 1989a
LIN,LOC "Skare JC &: Hum Genet, 82, 354-358, 1989b
LOC,MUT "Skare JC &: AJHG, 41, A185-185, 1987a
LIN,LOC "Skare JC &: PNAS, 84, 2015-2018, 1987b
LIN,LOC "Sylla BS &: Clin Genet, 36, 359-462, 1989
LOC,MUT "Wyandt HE &: AJHG, 45, A108-108, 1989

KEY

imm

CLA

coding, basic

LOC

0X q25

MIM

MIM: 308240

SYN

XLPD EBVS LYP