Gene: [0Xq133/ATRX] helicase 2, X-linked (XH2); RAD54 (Yeast) homolog; alpha thalassemia/mental retardation syndrome, X-linked; alpha thalassemia/mental retardation syndrome, nondeletion type (MIM:301040); Juberg-Marsidi syndrome (MIM:309590); [RAD54 XH2 JMS ]


CAG

Villard-1996a,1996b demonstrated that X-linked alpha-thalassemia/mental retardation syndrome and Juberg-Marsidi syndrome appear to be allelic disorders."

REF

MUT,PAT "Gibbons RJ &: Cell, 80, 837-845, 1995
CLO,SEQ,STR,LOC "Picketts DJ &: Hum Mol Genet, 5, 1899-1907, 1996
CLO,SEQ,STR,LOC "Stayton CL &: Hum Mol Genet, 3, 1957-1964, 1994
MUT,PAT "Villard L &: AJHG, 58, 499-505, 1996a
MUT,PAT "Villard L &: Nature Genet, 12, 359-360, 1996b

SWI

SWISSPROT: P46100

KEY

neu, devd

CLA

coding, basic

LOC

0X q13.3

MIM

MIM: 300032

SYN

RAD54 XH2 JMS

鸯铗痂蝈 蜞赕:

  • 耔礓痤 ATRX (耔礓痤 嚯-蜞豚皴扈 箪耱忮眄铋 铗耱嚯铖蜩)