Gene: [03p213/COL7A1] collagen, type VII, alpha 1 (long-chain); epidermolysis bullosa, dystrophic (Pasini type; MIM:131750); epidermolysis bullosa (Cockayne-Touraine type; 131800); epidermolysis bullosa, pretibial (MIM:131850); epidermolysis bullosa dystrophica (Bart syndrome type; MIM:132000); epidermolysis bullosa dystrophica, recessive, localisata variant;
|
HET |
See GEM:08q24/EBS1. |
|
REF |
FUN,PEP,MOP "Bentz &: PNAS, 80, 3168-3172, 1983 FUN,PEP,MOP "Burgeson &: Ann NY Acad Sci, 460, 47-57, 1985 LIN,PAT,MUT "Christiano AM &: AJHG, 58, 682-693, 1996 LIN,PAT,MUT "Christiano AM &: J Clin Invest, 95, 1328-1334, 1995a LIN,PAT,MUT "Christiano AM &: Hum Mol Genet, 4, 1579-1583, 1995b CLO,SEQ,GEN,POL "Christiano AM &: JBC, 269, 20256-20262, 1994a CLO,SEQ,GEN,POL "Christiano AM &: Genomics, 21, 169-179, 1994b LIN,PAT,MUT "Christiano AM &: PNAS, 91, N9, 3549-3553, 1994c LIN,PAT,MUT "Christiano AM &: Nature Genet, 4, 62-66, 1993 LIN,PAT,MUT "Gardella R &: AJHG, 59, 292-300, 1996 LOC "Greenspan DS &: CCG, 62, 35-36, 1993 LIN "Ryynanen M &: AJHG, 49, N4, 797-803, 1991 LIN "Zelickson B &: Arch Derm, 131, 663-668, 1995 |
|
KEY |
exce |
|
CLA |
coding, basic |
|
LOC |
03 p21.3 |
|
MIM |
MIM: 120120 |
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