Literature DB >> 24903897

A novel L1340P mutation in the ANK1 gene is associated with hereditary spherocytosis?

Dżamila M Bogusławska1, Elżbieta Heger, Marcin Listowski, Dariusz Wasiński, Kazimierz Kuliczkowski, Beata Machnicka, Aleksander F Sikorski.   

Abstract

Entities:  

Keywords:  UPA domain; ankyrin; erythrocyte membrane; hereditary spherocytosis; spectrin

Mesh：

Substances：

Year:  2014        PMID： 24903897     DOI： 10.1111/bjh.12960

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


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  4 in total

1.  Two novel ANK1 loss-of-function mutations in Chinese families with hereditary spherocytosis.

Authors:  Lili Hao; Shanshan Li; Duan Ma; Shiyu Chen; Bowen Zhang; Deyong Xiao; Jin Zhang; Nan Jiang; Shayi Jiang; Jing Ma
Journal:  J Cell Mol Med       Date:  2019-04-23       Impact factor: 5.310

Review 2.  Old and new insights into the diagnosis of hereditary spherocytosis.

Authors:  Olga Ciepiela
Journal:  Ann Transl Med       Date:  2018-09

3.  A new frameshift mutation of the β-spectrin gene associated with hereditary spherocytosis.

Authors:  Dżamila M Bogusławska; Elżbieta Heger; Beata Machnicka; Michał Skulski; Kazimierz Kuliczkowski; Aleksander F Sikorski
Journal:  Ann Hematol       Date:  2016-10-06       Impact factor: 3.673

4.  Identification of a Novel Mutation of β-Spectrin in Hereditary Spherocytosis Using Whole Exome Sequencing.

Authors:  Dżamila M Bogusławska; Michał Skulski; Beata Machnicka; Stanisław Potoczek; Sebastian Kraszewski; Kazimierz Kuliczkowski; Aleksander F Sikorski
Journal:  Int J Mol Sci       Date:  2021-10-12       Impact factor: 5.923
  4 in total

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