Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients

被引：27
作者：
Wang, LL
Gannavarapu, A
Clericuzio, CL
Erickson, RP
Irvine, AD
Plon, SE
机构：
[1] Baylor Coll Med, Dept Pediat, Texas Childrens Canc Ctr, Houston, TX 77030 USA
[2] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA
[3] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[4] Univ Dundee, Human Genet Unit, Dundee, Scotland
[5] Univ Arizona, Sch Med, Dept Pediat, Tucson, AZ USA
[6] Univ New Mexico, Sch Med, Dept Pediat, Albuquerque, NM 87131 USA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2003年 / 118A卷 / 03期
关键词：
D O I：
10.1002/ajmg.a.10057
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：299 / 301
页数：3
相关论文
共 13 条
  • [1] Clericuzio C, 1991, AM J HUM GENET, V49, pA661
  • [2] Erickson RP, 1999, GENET MED, V1, P151
  • [3] Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
    Kitao, S
    Shimamoto, A
    Goto, M
    Miller, RW
    Smithson, WA
    Lindor, NM
    Furuichi, Y
    [J]. NATURE GENETICS, 1999, 22 (01) : 82 - 84
  • [4] Aplastic anemia in a patient with Rothmund-Thomson syndrome
    Knoell, KA
    Sidhu-Malik, NK
    Malik, RK
    [J]. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, 1999, 21 (05) : 444 - 446
  • [5] Lindor NM, 2000, AM J MED GENET, V90, P223, DOI 10.1002/(SICI)1096-8628(20000131)90:3<223::AID-AJMG7>3.0.CO
  • [6] 2-Z
  • [7] Porter WM, 1999, CLIN EXP DERMATOL, V24, P452
  • [8] Myelodysplastic syndrome in a child with Rothmund-Thomson syndrome: A case report
    Rizzari, C
    Bacchiocchi, D
    Rovelli, A
    Biondi, A
    CantuRajnoldi, A
    Uderzo, C
    Masera, G
    [J]. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, 1996, 18 (01) : 96 - 97
  • [9] VANHOVE JL, 2000, AM J HUM GENET S, V67, pA634
  • [10] Wang LL, 2001, AM J MED GENET, V102, P11, DOI 10.1002/1096-8628(20010722)102:1<11::AID-AJMG1413>3.0.CO
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