Gene: [12q131/COL2A1] collagen, type II, alpha 1; chondrocalcin; primary osteoarthritis; spondyloepiphyseal dysplasia, congenital type (MIM:183900); achondrogenesis-hypogenesis type II (MIM:200610); osteoarthritis with mild chondrodysplasia; arthroophthalmopathy, progressive (Stickler syndrome; AOM; MIM:108300); hypochondrogenesis; spondyloepimetaphyseal dysplasia, Strudwick type (MIM:184250); Kniest dysplasia (MIM:156550); [SEDC AOM ]
REF | MUT "Ahmad
NN &: Arch Ophthal, 113, 1454-1457, 1995 MUT "Ahmad NN &: AJHG, 52, 39-45, 1993 MUT "Ahmad NN &: PNAS, 88, 6624-6627, 1991 MUT "Ahmad NN &: AJHG, 47, A206-206, 1990 MUT "Ala-Kokko L &: PNAS, 87, 6565-6568, 1990 SEQ,GEN "Boedtker &: Int Rev Connect Tissue Res, 10, 1-63, 1983 MUT "Bogaert R &: JBC, 267, 22522-22526, 1992 MUT "Brown DM &: Arch Ophthal, 110, 1589-1593, 1992 MUT "Chan D &: JBC, 268, 15238-15245, 1993 MUT "Cole WG &: J Med Genet, 30, 27-35, 1993 PAT,MAP "Francomano CA &: Genomics, 1, 293-296, 1987 MUT "Horton WA &: PNAS, 89, 4583-4587, 1992 MUT,REV "Kuivaniemi H &: Hum Mut, 9, 300-315, 1997 LOC "Law &: Ann Hum Genet, 50, 131-137, 1986 PHE,MEB "Lee B &: Science, 244, 978-980, 1989 MUT "Mortier GR &: Hum Mol Genet, 4, 285-288, 1995 PHE,MEB "Murray, Rimoin: AJHG, 37, A13, 1985 MUT "Ritvaniemi P &: Genomics, 17, 218-221, 1993 LOC "Takahashi E &: CCG, 54, 84-85, 1990a LOC "Takahashi E &: Hum Genet, 86, 14-16, 1990b MUT "Tiller GE &: AJHG, 53, A209-209, 1993 MUT "Tiller GE &: PNAS, 87, 3889-3893, 1990 FOG,LIN,MEB "Tsipouras &: CCG, 51, (HGM10), 1093, 1989 MUT "Vikkula M &: Genomics, 16, 282-285, 1993 MUT "Wilkin DJ &: Hum Mol Genet, 3, 1999-2003, 1994 MUT "Williams CJ &: Am J Med Genet, 63, 461-467, 1996 MUT "Williams CJ &: Hum Mol Genet, 4, 309-312, 1995 MUT "Williams CJ &: Hum Genet, 92, 499-505, 1993 MUT "Winterpacht A &: Hum Mol Genet, 3, 1891-1893, 1994 MUT "Winterpacht A &: Nature Genet, 3, 323-326, 1993 |
SWI | SWISSPROT: P02458 |
KEY | bone, exce, devd, eye |
CLA | coding, basic |
LOC | 12 q13.11-.12 |
MIM | MIM: 120140 |
SYN | SEDC AOM |
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