Gene: [01p3/EKV] erythrokeratodermia variabilis; progressive symmetrical erythrokeratoderma; [PSEK ]
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COM |
The HGM catalogues do not register the regional location of this gene, in Chr 1. The GEM and MIM catalogues rely on the hypothesis of Van der Schroeff JG &:1984,1988 about the linkage of EKV with the Rhesus isoantigens (GEM:01p3/RHCE)." |
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REF |
HIS,PHE "Hacham-Zadeh S, Even-Paz Z: Clin Genet, 13, 404-408, 1978 PAT,FOG "Macfarlane AW &: Brit J Derm, 124, 487-491, 1991 HIS,PHE "Mendes DaCosta S: Acta Derm Venerol, 6, 225-261, 1925 LOC,LIN "Van der Schroeff JG &: Hum Genet, 80, 97-98, 1988 LOC,LIN "Van der Schroeff JG &: Hum Genet, 68, 165-168, 1984 |
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KEY |
derm |
|
CLA |
unknown, basic |
|
LOC |
01 p36.2-34 |
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MIM |
MIM: 133200 |
|
SYN |
PSEK |
