X inactivation in females with X-linked disease

被引：119

作者：

Puck, JM ^{[1
]}

Willard, HF

机构：

[1] NIH, Bethesda, MD 20892 USA

[2] Case Western Reserve Univ, Sch Med, Cleveland, OH 44106 USA

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 1998年 / 338卷 / 05期

关键词：

D O I：

10.1056/NEJM199801293380511

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：325 / 328

页数：4

共 11 条

[1]

ALLEN RC, 1994, AM J HUM GENET, V54, P25

[2]

Belmont JW, 1996, AM J HUM GENET, V58, P1101

[3] THE HUMAN XIST GENE - ANALYSIS OF A 17 KB INACTIVE X-SPECIFIC RNA THAT CONTAINS CONSERVED REPEATS AND IS HIGHLY LOCALIZED WITHIN THE NUCLEUS [J].

BROWN, CJ ;

HENDRICH, BD ;

RUPERT, JL ;

LAFRENIERE, RG ;

XING, Y ;

LAWRENCE, J ;

WILLARD, HF .

CELL, 1992, 71 (03) :527-542

[4] Transient Xist-ence [J].

Kuroda, MI ;

Meller, VH .

CELL, 1997, 91 (01) :9-11

[5] GENE ACTION IN X-CHROMOSOME OF MOUSE (MUS MUSCULUS L) [J].

LYON, MF .

NATURE, 1961, 190 (477) :372-&

[6]

Naumova AK, 1996, AM J HUM GENET, V58, P1111

[7] X-linked Wiskott-Aldrich syndrome in a girl [J].

Parolini, O ;

Ressmann, G ;

Haas, OA ;

Pawlowsky, J ;

Gadner, H ;

Knapp, W ;

Holter, W .

NEW ENGLAND JOURNAL OF MEDICINE, 1998, 338 (05) :291-295

[8] A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation [J].

Plenge, RM ;

Hendrich, BD ;

Schwartz, C ;

Arena, JF ;

Naumova, A ;

Sapienza, C ;

Winter, RM ;

Willard, HF .

NATURE GENETICS, 1997, 17 (03) :353-356

[9]

PRCHAL JT, 1980, BLOOD, V56, P1048

[10]

PUCK JM, 1992, AM J HUM GENET, V50, P742

← 1 2 →