A case of Wiskott-Aldrich syndrome with dual mutations in exon 10 of the WASP gene: An additional de novo one-base insertion, which restores frame shift due to an inherent one-base deletion, detected in the major population of the patient's peripheral blood lymphocytes

被引：33

作者：

Ariga, T ^{[1
]}

Yamada, M

Sakiyama, Y

Tatsuzawa, O

机构：

[1] Hokkaido Univ, Sch Med, Dept Pediat, Sapporo, Hokkaido 060, Japan

[2] Natl Childrens Hosp, Div Infect Dis & Rhematol, Tokyo 154, Japan

来源：

BLOOD | 1998年 / 92卷 / 02期

关键词：

D O I：

10.1182/blood.V92.2.699

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：699 / 701

页数：3

共 9 条

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[6] Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells
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[7] Studies of the expression of the Wiskott-Aldrich syndrome protein
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[J]. JOURNAL OF CLINICAL INVESTIGATION, 1996, 97 (11) : 2627 - 2634
[8] X-LINKED THROMBOCYTOPENIA AND WISKOTT-ALDRICH SYNDROME ARE ALLELIC DISEASES WITH MUTATIONS IN THE WASP GENE
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[J]. NATURE GENETICS, 1995, 9 (04) : 414 - 417
[9] NONRANDOM INACTIVATION OF THE X-CHROMOSOME IN EARLY LINEAGE HEMATOPOIETIC-CELLS IN CARRIERS OF WISKOTT-ALDRICH SYNDROME
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[J]. BLOOD, 1995, 85 (09) : 2471 - 2477

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