Gene: [02p/AKE] acrokeratoelastoidosis (collagenous plaques of hands);
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COM |
The GDB as well as HGM catalogues do not include this marker. It was included to OMIM on the basis of data of FER:Greiner-1983 on the linkage of AKE with Chr 2p markers. One of these markers was afterwards mapped to Chr 18q. Thus, the assignment of AKE to Chr 2 is open to question." |
|
LIN |
The data of Greiner-1983 exist about the possible linkage of this gene with three markers, ACP1, IGKC, and JK, the former two being mapped to Chr 2p. However, more recently Kidd antigen complex (Jk) was mapped to Chr 18q (GEM:18q/SLC14A1)." |
|
REF |
HIS,PHE "Costa OG: Arch Derm Syph, 70, 228-231, 1954 HIS,PHE "Costa OG: Dermatologica, 107, 164-167, 1953 LOC,LIN,COM "Greiner J &: Hum Genet, 63, 222-227, 1983 REV "Stevens HP &: Arch Derm, 132, 640-651, 1996 |
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KEY |
derm |
|
CLA |
unknown, basic |
|
LOC |
02 p? |
|
MIM |
MIM: 101850 |
