Gene: [0Xp22/PPEF1] protein phosphatase, EF hand calcium-binding domain 1;
|
COM |
Montini-1997 assigned PPEF1 gene to Chr Xp22 (to the region of the DXS999 marker)." |
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MUT |
Montini-1997 and van de Vosse-1997 tested the PPEF1 gene as a candidate for the site of the mutation in juvenile retinoschisis (GEM:0Xp22/RS1). No mutations were identified." |
|
REL |
GEM:04^/PPEF2. |
|
REF |
CLO,SEQ,LOC,MUT "Montini E &: Hum Mol Genet, 6, 1137-1145, 1997 MUT "van de Vosse &: Hum Genet, 101, N2, 235-237, 1997 |
|
CLA |
coding, basic |
|
LOC |
0X p22 |
|
MIM |
MIM: 300109 |
