IS SKEWED X-INACTIVATION RESPONSIBLE FOR SYMPTOMS IN FEMALE CARRIERS FOR ADRENOLEUKODYSTROPHY

被引：30

作者：

WATKISS, E ^{[1
]}

WEBB, T ^{[1
]}

BUNDEY, S ^{[1
]}

机构：

[1] UNIV BIRMINGHAM,BIRMINGHAM MATERN HOSP,SUB DEPT CLIN GENET,BIRMINGHAM B15 2TG,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1993年 / 30卷 / 08期

关键词：

D O I：

10.1136/jmg.30.8.651

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A study of X inactivation in 12 female carriers for adrenoleucodystrophy showed no evidence that skewed patterns are related to clinical manifestation. Other possible mechanisms to explain manifestation in females are considered.

引用

页码：651 / 654

页数：4

共 50 条

[1] Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation
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[2] Skewed X-inactivation is associated with retinal dystrophy in female carriers of RPGR mutations
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[6] Skewed X-inactivation is common in the general female population
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[7] Skewed X-inactivation is common in the general female population
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[10] Blue cone monochromatism in a female due to skewed X-inactivation
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