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
  • [21] Targeted next-generation sequencing identifies a novel nonsense mutation in ANK1 for hereditary spherocytosis: A case report
    Pan Fu
    Yang-Yang Jiao
    Kai Chen
    Jing-Bo Shao
    Xue-Lian Liao
    Jing-Wei Yang
    Sha-Yi Jiang
    World Journal of Clinical Cases, 2022, (15) : 4923 - 4928
  • [22] An ANK1 IVS3-2A>C mutation causes exon 4 skipping in two patients from a Chinese family with hereditary spherocytosis
    Wang, Xiong
    Mao, Liyan
    Shen, Na
    Peng, Jing
    Zhu, Yaowu
    Hu, Qun
    Lu, Yanjun
    ONCOTARGET, 2017, 8 (68) : 113282 - 113286
  • [23] Targeted next-generation sequencing identifies a novel nonsense mutation in ANK1 for hereditary spherocytosis: A case report
    Fu, Pan
    Jiao, Yang-Yang
    Chen, Kai
    Shao, Jing-Bo
    Liao, Xue-Lian
    Yang, Jing-Wei
    Jiang, Sha-Yi
    WORLD JOURNAL OF CLINICAL CASES, 2022, 10 (15) : 4923 - 4928
  • [24] Novel hereditary spherocytosis-associated splice site mutation in the ANK1 gene caused by parental gonosomal mosaicism
    Wang, Xiong
    Shen, Na
    Huang, Ming
    Lu, Yanjun
    Hu, Qun
    HAEMATOLOGICA, 2018, 103 (05) : E219 - E222
  • [25] Targeted next-generation sequencing identified a novel ANK1 mutation associated with hereditary spherocytosis in a Chinese family
    Sun, Qing
    Xie, Yao
    Wu, Penghui
    Li, Shuo
    Hua, Ying
    Lu, Xintian
    Zhao, Weihong
    HEMATOLOGY, 2019, 24 (01) : 583 - 587
  • [26] Apparently recessive hereditary spherocytosis associated with de novo frameshift mutations of the ankyrin gene (ANK1): Allele Bugey and allele Napoli.
    Morle, L
    delGiudice, EM
    Bozon, M
    Perrotta, S
    Hayette, S
    Alloisio, N
    Vallier, A
    Forget, BG
    Iolascon, A
    Delaunay, J
    BLOOD, 1995, 86 (10) : 1854 - 1854
  • [27] Novel α-Spectrin Mutation in Trans with α-SpectrinLEPRA Causing Severe Neonatal Jaundice from Hereditary Spherocytosis
    Nussenzveig, Roberto H.
    Christensen, Robert D.
    Prchal, Josef T.
    Yaish, Hassan M.
    Agarwal, Archana M.
    NEONATOLOGY, 2014, 106 (04) : 355 - 357
  • [28] Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis: Three new ANK1 variants: Ankyrins Bari, Napoli II and Anzio
    Randon, J
    delGiudice, EM
    Bozon, M
    Perrotta, S
    DeVivo, M
    Iolascon, A
    Delaunay, J
    Morle, L
    BRITISH JOURNAL OF HAEMATOLOGY, 1997, 96 (03) : 500 - 506
  • [29] Identification of a novel &ITde novo&IT ANK1 R1426*nonsense mutation in a Chinese family with hereditary spherocytosis by NGS
    Wang, Xiong
    Yi, Bin
    Mu, Ketao
    Shen, Na
    Zhu, Yaowu
    Hu, Qun
    Lu, Yanjun
    ONCOTARGET, 2017, 8 (57) : 96791 - 96797
  • [30] A Novel de novo Mutation in ANK1 Gene Identified through Targeted Next-Generation Sequencing in a Neonate with Hereditary Spherocytosis
    Jang, Woori
    Kim, Soon Ki
    Nahm, Chung Hyun
    Choi, Jong Weon
    Kiml, Jin Ju
    Moon, Yeonsook
    ANNALS OF CLINICAL AND LABORATORY SCIENCE, 2021, 51 (01): : 136 - 139
12345