Gene: [05^/CKN1] Cockayne syndrome A protein (WD-repeat protein); Cockayne syndrome 1 (classical form A); [CSA ]


CAG

On late onset form of Cockayne syndrome see GEM:10q11/ERCC6.

REF

CLO,SEQ,LOC,MUT "Henning KA &: Cell, 82, N4, 555-564, 1995
MUT "McDaniel LD &: Hum Mut, 10, N4, 317-321, 1997
PAT,REV "Nance MA, Berry SA: Am J Med Genet, 42, N1, 68-84, 1992

SWI

SWISSPROT: Q13216

KEY

neu, devd

CLA

coding, basic

LOC

05

MIM

MIM: 216400

SYN

CSA

Смотрите также:

  • Синдром Коккейна (CS)