A new ankyrin mutation (ANK1 EXON E9X) causing severe hereditary spherocytosis in the neonatal period

被引：0
|
作者：
Florian Gundel
Stefan Eber
Axel Heep
机构：
[1] Harlaching Hospital,Department of Paediatrics
来源：
Annals of Hematology | 2011年 / 90卷
关键词：
Hereditary Spherocytosis; Germ Cell Line; Transfusion Independence; Affected Infant; Osmotic Resistance;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：231 / 232
页数：1
相关论文
共 41 条
  • [1] A new ankyrin mutation (ANK1 EXON E9X) causing severe hereditary spherocytosis in the neonatal period
    Gundel, Florian
    Eber, Stefan
    Heep, Axel
    ANNALS OF HEMATOLOGY, 2011, 90 (02) : 231 - 232
  • [2] A de novo ankyrin mutation (ANK1 Q109X) causing severe hereditary spherocytosis from preterm neonatal period
    Liu, Sha
    Jiang, Hua
    Huang, Lv-Yin
    Li, Dong-Zhi
    ANNALS OF HEMATOLOGY, 2017, 96 (06) : 1067 - 1068
  • [3] A de novo ankyrin mutation (ANK1 Q109X) causing severe hereditary spherocytosis from preterm neonatal period
    Sha Liu
    Hua Jiang
    Lv-Yin Huang
    Dong-Zhi Li
    Annals of Hematology, 2017, 96 : 1067 - 1068
  • [4] Ankyrin Napoli: A de novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis
    delGiudice, EM
    Hayette, S
    Bozon, M
    Perrotta, S
    Alloisio, N
    Vallier, A
    Iolascon, A
    Delaunay, T
    Morle, L
    BRITISH JOURNAL OF HAEMATOLOGY, 1996, 93 (04) : 828 - 834
  • [5] A Novel ENU-Induced Intronic Mutation of Ank1 Causing Quantitative Defect of Ankyrin-1 Models Hemolytic Hereditary Spherocytosis in Mouse
    Du, Xin
    Huang, Hua
    Krieg, Lara
    BLOOD, 2012, 120 (21)
  • [6] A Novel ANK1 Mutation in a Neonatal Hereditary Spherocytosis Case: Diagnostic Challenges and Familial Genetic Analysis
    Li, Jing
    Guo, Haiyan
    Zhu, Zaifu
    Sun, Jingmin
    ACTA HAEMATOLOGICA, 2022, 145 (06) : 575 - 580
  • [7] Apparently normal ankyrin content in unsplenectomized hereditary spherocytosis patients with the inactivation of one ankyrin (ANK1) allele
    delGiudice, EM
    Francese, M
    Polito, R
    Nobili, B
    Iolascon, A
    Perrotta, S
    HAEMATOLOGICA, 1997, 82 (03) : 332 - 333
  • [8] A de novo ANK1 mutation in a childhood hereditary spherocytosis: a case report
    Yafeng Wang
    Linlin Liu
    Dandan Liu
    Wei Liu
    BMC Pediatrics, 23
  • [9] High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary spherocytosis
    del Giudice, EM
    Francese, M
    Nobili, B
    Morlé, L
    Cutillo, S
    Delaunay, J
    Perrotta, S
    JOURNAL OF PEDIATRICS, 1998, 132 (01): : 117 - 120
  • [10] Identification of a de novo ANK1 mutation in a Chinese family with hereditary spherocytosis
    Guan, Hongzai
    Liang, Xinping
    Zhang, Rong
    Wang, Haiyan
    Liu, Wenmiao
    Zhang, Ru
    Yang, Jie
    Liu, Shiguo
    HEMATOLOGY, 2018, 23 (06) : 357 - 361
12345