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

Смотрите также:

  • Gene: [07q1123/ELN] elastin (tropoelastin); supravalvular aortic stenosis (SVAS); Williams-Beuren syndrome (WS; WBS; MIM:194050); hypercalcemia, infantile (with elfin facies); [SVAS WS WBS ]
  • Gene: [04p1/RFC1] replication factor C (activator 1) 1 (145kD);