Gene: [0Xq22/COL4A6] collagen, type IV, alpha 6; diffuse esophageal leiomyomatosis with Alport syndrome (MIM:308940);
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COM |
A COL4A6 gene is located on the Chr 0Xq22 in a head-to-head arrangement and within 452 bp of the COL4A5 gene (GEM:0Xq22/COL4A5; Zhou-1993)." |
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REF |
MUT "Heidet L &: Hum Mol Genet, 4, 99-108, 1995 CLO,SEQ,GEN "Oohashi T &: JBC, 270, 26863-26867, 1995 CLO,SEQ,STR "Oohashi T &: JBC, 269, 7520-7526, 1994 CLO,SEQ,GEN "Zhang X &: Genomics, 33, 473-479, 1996 CLO,SEQ,GEN "Zhou J &: JBC, 269, 13193-13199, 1994 CLO,SEQ,LOC,MUT "Zhou J &: Science, 261, 1167-1169, 1993 |
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KEY |
exce, ren, devd |
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CLA |
coding, basic |
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LOC |
0X q22 |
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MIM |
MIM: 303631 |
