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 ]
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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 |
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KEY |
imm |
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CLA |
coding, basic |
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LOC |
0X q25 |
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MIM |
MIM: 308240 |
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SYN |
XLPD EBVS LYP |
