Gene: [0Xq28/GDI1] GDP dissociation inhibitor 1; rab GDP-dissociation inhibitor, alpha (RABGDIA); mental retardation, X-linked 41 (MRX41); mental retardation, X-linked 48 (MRX48); [GDIL RABGDIA ]
|
MUT |
D'Adamo-1997 found unique mutations in the GDI1 gene in affected members of the MRX41 (reported by Hamel-1996) and MRX48 (reported by des Portes-1997) families." |
|
REL |
GEM:10p15/GDI2. |
|
REF |
CLO,SEQ,LOC "Bachner D &: Hum Mol Genet, 4, 701-708, 1995 MUT "D'Adamo P &: AJHG, 61, (Suppl.), A11, 1997 LIN,LOC "des Portes V &: AJHG, 60, 903-909, 1997 LIN,LOC "Hamel BC &: Am J Med Genet, 64, 131-133, 1996 CLO,SEQ,LOC "Sedlacek Z &: Mammal Genome, 5, 633-639, 1994 CLO,SEQ,LOC "Sedlacek Z &: Hum Mol Genet, 2, N11, 1865-1869, 1993 |
|
KEY |
neu, devd |
|
CLA |
coding, basic |
|
LOC |
0X q28 |
|
MIM |
MIM: 300104 |
|
SYN |
GDIL RABGDIA |
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