Gene: [0Xp113/COD1] cone dystrophy, X-linked, 1 (incomplete achromatopsia);
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COM |
Hong-1994 mapped COD1 gene to Chr Xp11.3 distal to DXS84 and proximal to GEM:0Xp11/ARAF1." |
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HET |
[1] About another X-linked form of cone dystrophy see GEM:0Xq27/COD2.
[2] Several other hereditary forms of cone dystrophy are known, including an autosomal dominant one (see GEM:06q27/RCD1), and a sex-linked one, with greenish-golden tapetal-like sheen of retina (MIM:304030). [3] One should distinguish achromatopsia with cone dystrophy from the complete color blindness (MIM:216900), in which the cones are retained but the color vision is deteriorated." |
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REF |
LOC,LIN "Bartley J &: CCG, 51, (HGM10), 959, 1989 LIN,LOC "Bergen AA &: Genomics, 18, 463-464, 1993 PHE,PAT,FOG "Fleischmann JA, O'Donnell FE: Arch Ophthal, 99, 468-472, 1981 LIN,LOC "Hong HK &: AJHG, 55, 1173-1181, 1994 PHE,PAT,FOG "Pinckers A &: Ophthalmic Paediat Genet, 1, 17-24, 1981a PHE,PAT,FOG "Pinckers A &: Ophthalmic Paediat Genet, 1, 25-36, 1981b |
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KEY |
eye |
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CLA |
unknown, basic |
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LOC |
0X p11.3 |
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MIM |
MIM: 304020 |
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