Gene: [11q135/MYO7A] myosin VIIA (Usher syndrome 1B, autosomal recessive, severe); Usher syndrome 1B (autosomal recessive, severe; retinitis/deafness); deafness, autosomal dominant 11 (DFNA11; MIM:601317); deafness, autosomal recessive 2 (DFNB2; MIM:600060); [USH1B DFNA11 ]
|
COM |
Weil-1997 demonstrated that the autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome, USH1B, are allelic defects of the myosin VIIA gene. Tamagawa-1996 mapped DFNA11 gene within the region containing the DFNB2 gene." |
|
REL |
GEM:14q32/USH1A. |
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REF |
CLO "Bement WM &: PNAS, 91, 6549-6553, 1994 LIN,LOC "Bonne-Tamir B &: Genomics, 20, 36-42, 1994 CLO,SEQ,STR,DOM "Chen Z-Y &: Genomics, 36, N3, 440-448, 1996 FUN,PAT "el-Amraoui A &: Hum Mol Genet, 5, 1171-1178, 1996 FUN,EVO "Gibson F &: Nature, 374, N6517, 62-64, 1995 LIN,LOC "Guilford P &: Hum Mol Genet, 3, 989-993, 1994 LOC "Hasson T &: Genomics, 36, N3, 431-439, 1996 LIN,LOC "Kimberling WJ &: Genomics, 14, 988-994, 1992 CLO,SEQ,STR,HET,MUT "Levy G &: Hum Mol Genet, 6, N1, 111-116, 1997 MUT "Liu X-Z &: Nature Genet, 16, N2, 188-190, 1997 LIN,LOC "Smith RJ &: Genomics, 14, 995-1002, 1992 LIN,LOC "Tamagawa Y &: Hum Mol Genet, 5, N6, 849-852, 1996 MUT,PAT "Weil D &: Nature Genet, 16, N2, 191-193, 1997 CLO,SEQ,MUT,PAT "Weil D &: PNAS, 93, N8, 3232-3237, 1996 MUT,PAT "Weil D &: Nature, 374, N6517, 60-61, 1995 MUT "Weston MD &: AJHG, 59, N5, 1074-1083, 1996 |
|
KEY |
myo, eye, neu |
|
CLA |
coding, basic |
|
LOC |
11 q13.5 |
|
MIM |
MIM: 276903 |
|
SYN |
USH1B DFNA11 |
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