A case report of Wiskott-Aldrich Syndrome with a splicing mutation in WAS gene

被引：0
|
作者：
Turcan, D. G. [1 ]
Andriesh, L. [2 ]
Schitco, O. [2 ]
Hlistun, V. [1 ]
Coliban, I. [1 ]
Dorif, A. [1 ]
Sacara, V. [1 ]
机构：
[1] Inst Mother & Child Hlth, Kishinev, Moldova
[2] Nicolae Testemitsanu State Univ Med & Pharm, Kishinev, Moldova
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2019年 / 27卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
E-P07.16
引用
收藏
页码：941 / 941
页数：1
相关论文
共 50 条
  • [1] WISKOTT-ALDRICH SYNDROME - REPORT OF A CASE
    ROUSSEY, M
    LEGALL, E
    VIRELIZIER, JL
    BETREMIEUX, P
    JOURNEL, H
    LEMAREC, B
    SENECAL, J
    ANNALES DE PEDIATRIE, 1986, 33 (02): : 119 - 122
  • [2] A case of Wiskott-Aldrich syndrome with a novel WASP gene mutation
    Yilmaz, M.
    Karakoc, G. B.
    Altintas, D. U.
    Kotil, A.
    Dogruel, D.
    Kendirli, S. G.
    ALLERGY, 2013, 68 : 505 - 506
  • [3] WISKOTT-ALDRICH SYNDROME - REPORT OF A CASE
    ROUSSEY, M
    LEGALL, E
    VIRELIZIER, JL
    BETREMIEUX, P
    JOURNEL, H
    LEMAREC, B
    SENECAL, J
    SEMAINE DES HOPITAUX, 1987, 63 (05): : 313 - 316
  • [4] MUTATION ANALYSIS OF THE WISKOTT-ALDRICH SYNDROME GENE
    ZHU, Q
    ZHANG, M
    BLASE, RM
    DERRY, JMJ
    CHEN, SH
    FRANCKE, U
    OCHS, HD
    FASEB JOURNAL, 1995, 9 (04): : A780 - A780
  • [5] WISKOTT-ALDRICH SYNDROME: A CASE REPORT
    Nasrullayeva, G.
    Ibrahimova, Sh
    Mammadova, V.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 (06) : 734 - 734
  • [6] A Novel Mutation in WAS Gene Causing a Phenotypic Presentation of Wiskott-Aldrich Syndrome: A Case Report
    Ochfeld, Elisa
    Grayer, Dannielle
    Sharma, Ruchika
    Schneiderman, Jennifer
    Giordano, Lisa
    Makhija, Melanie
    JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, 2021, 43 (02) : E234 - E236
  • [7] WISKOTT-ALDRICH SYNDROME - REPORT OF ONE CASE
    SIMAR, J
    FOURNIER, JL
    CAFFIER, J
    FARRIAUX, JP
    FONTAINE, G
    SEMAINE DES HOPITAUX, 1974, 50 (21): : 417 - 424
  • [8] WISKOTT-ALDRICH SYNDROME - REPORT OF ADDITIONAL CASE
    JOHNSON, GM
    BURGERT, EO
    BURKE, EC
    MAYO CLINIC PROCEEDINGS, 1964, 39 (04) : 258 - &
  • [9] Wiskott-Aldrich syndrome. Case report
    Pacheco-Rosas, Daniel
    Pomerantz, Alan
    Blachman-Braun, Ruben
    ARCHIVOS ARGENTINOS DE PEDIATRIA, 2015, 113 (03): : E137 - E139
  • [10] Wiskott-Aldrich syndrome: A new synonym mutation in the WAS gene
    Sun, Yuxin
    Song, Xiaomin
    Pan, Hua
    Li, Xiaoxuan
    Sun, Lirong
    Song, Liang
    Ma, Fei
    Hao, Junnan
    INTRACTABLE & RARE DISEASES RESEARCH, 2024, 13 (01) : 69 - 72
12345