Gene: [0Xq28/EMD] emerin; muscular dystrophy, Emery-Dreifuss type;
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REF |
CLO,SEQ,MUT "Bione S &: Hum Mol Genet, 4, 1859-1863, 1995 PEP,MUT "Bione S &: Nature Genet, 8, 323-327, 1994 LIN,LOC "Cole CG &: Neuromuscul Disord, 2, 51-57, 1992 LIN,LOC "Cole CG &: CCG, 58, (HGM11), 2059, 1991 LIN,LOC "Consalez GG &: AJHG, 48, 468-480, 1991 LIN,LOC "Goldblatt J &: Clin Genet, 35, 1-4, 1989 LIN,LOC "Hodgson S &: Hum Genet, 74, 409-416, 1986 MUT "Klauck SM &: Hum Mol Genet, 4, 1853-1857, 1995 LIN,LOC "Kress W &: Neuromuscul Disord, 2, 111-115, 1992 FUN "Manilal S &: Hum Mol Genet, 5, 801-808, 1996 MUT "Nagano A &: Nature Genet, 12, 254-259, 1996 FAG,POP "Rudenskaya GE &: Am J Med Genet, 50, 228-233, 1994 LIN,LOC "Warner JP &: CCG, 58, (HGM11), 2088, 1991 LIN,LOC "Wehnert M &: CCG, 58, (HGM11), 2089, 1991 MUT "Yamada T, Kobayashi T: Hum Genet, 97, 693-694, 1996 LIN,LOC "Yates JR &: J Med Genet, 23, 587-590, 1986 |
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KEY |
neu, mem |
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CLA |
coding, basic |
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LOC |
0X q28 |
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MIM |
MIM: 310300 |
