Gene: [07q1123/RFC2] replication factor C (activator 1) 2 (40kD); Williams-Beuren syndrome (WBS; MIM:194050); [WS WBS ]
PAT | Peoples-1996 reported that the subunit 2 (40kD) gene is deleted in 18 of 18 patients with Williams-Bauren syndrome." |
REF | SEQ "Chen M &: PNAS, 89, 2516-2520, 1992 CLO,PRO,LOC "Okumura K &: Genomics, 25, 274-278, 1995 MUT "Peoples R &: AJHG, 58, N6, 1370-1373, 1996 |
SWI | SWISSPROT: P35250 |
CLA | coding, basic |
LOC | 07 q11.23 |
MIM | MIM: 600404 |
SYN | WS WBS |
