Gene: [0Xq2/DKC1] dyskerin (orthologue of rat NAP57 and S.cerevisiae CBF5); dyskeratosis congenita (DKC; MIM:305000); [DKC ]
|
REF |
LIN,LOC "Arngrimsson R &: J Med Genet, 30, N7, 618-619, 1993 PAT,REV "Caux F &: Eur J Dermatol, 6, 332-334, 1996 LIN,LOC "Connor JM &: Hum Genet, 72, N4, 348-351, 1986 PAT,REV "Dokal I: Brit J Haematol, 92, N4, 775-779, 1996 MUT,PAT "Heiss N &: Nature Genet, 19, N1, 32-38, 1998 LIN,LOC "Knight SW &: J Med Genet, 33, N12, 993-995, 1996 |
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KEY |
derm |
|
CLA |
coding, basic |
|
LOC |
0X q27-28 |
|
MIM |
MIM: 300126 |
|
SYN |
DKC |
