Gene: [09q/FRDA1] frataxin; phosphatidylinositol-4-phosphate 5-kinase, type ?; Friedreich ataxia 1;
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COM |
Chamberlain-1988, basing on the linkage data, assigned FAT gene provisionally to the short arm (09 p22-c), however, more recent reports took an account for the suppression of recombination in the neighborhood of centromere and suggested the location 09q13-21.1. See also the report of the Committee on Genetic Constitution (Smith-1989, p.202)." |
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REL |
GEM:00.0/FRDA2. |
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REF |
MUT "Bidichandani SI &: AJHG, 60, 1251-1256, 1997 CLO,SEQ,MUT "Campuzano V &: Science, 271, 1423-1427, 1996 CLO,EXP,FUN "Carvajal JJ &: Nature Genet, 14, 157-162, 1996 CLO,SEQ,FUN "Carvajal JJ &: Hum Mol Genet, 4, 1411-1419, 1995 LIN,MOL,FOG "Chamberlain S &: AJHG, 44, 518-521, 1989a LIN,MOL "Chamberlain S &: CCG, 51, (HGM10), 975, 1989b COM,LIN "Chamberlain S &: Nature, 334, 248-250, 1988 CLO,SEQ "Duclos F &: AJHG, 53, 63A, 1993a CLO,SEQ "Duclos F &: PNAS, 90, 109-113, 1993b LIN,MAG "Fujita R &: CCG, 51, (HGM10), 1001, 1989 LIN,MAG "Fujita R &: Genomics, 4, N1, 110-111, 1988 CLO,SEQ,MOU "Koutnikova H &: Nature Genet, 16, 345-351, 1997 FUN "Monros E &: AJHG, 61, 101-110, 1997 CLO,SEQ,LOC "Montermini L &: AJHG, 57, 1061-1067, 1995 LIN,MOL "Pandolfo &: Atti Assoc Genet Ital, 35, 251-252, 1989 FUN "Pianese L &: J Med Genet, 31, 133-135, 1994 LIN,MOL,FOG "Richter &: CCG, 51, (HGM10), 1066, 1989 LOC,FUN "Rodius F &: AJHG, 54, 1050-1059, 1994 LIN,MOL "Ross DA &: CCG, 51, (HGM10), 1069, 1989 FUN "Sirugo G &: Eur J Hum Genet, 1, 133-143, 1993 COM,LIN "Smith M, Simpson: CCG, 51, (HGM10), 202-225, 1989 |
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KEY |
neu, tri, lip |
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CLA |
coding, basic |
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LOC |
09 q13-21.1 |
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MIM |
MIM: 229300 |
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EZN |
ENZYME: 2.7.1.68? |
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