Identification and characterization of a novelXKsplice site mutation in a patient with McLeod syndrome-Reference-Cited by-同舟云学术

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Identification and characterization of a novelXKsplice site mutation in a patient with McLeod syndrome

Published:2009-03 Issue:3 Volume:49 Page:479-484
ISSN:0041-1132
Container-title:Transfusion
language:en
Short-container-title:

Author:

Arnaud Lionel,Salachas François,Lucien Nicole,Maisonobe Thierry,Le Pennec Pierre-Yves,Babinet Jérôme,Cartron Jean-Pierre

Publisher

Wiley

Subject

Hematology,Immunology,Immunology and Allergy

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1537-2995.2008.02003.x/fullpdf

Reference22 articles.

1. McLeod syndrome: a neurohaematological disorder;Jung;Vox Sang,2007

2. McLeod myopathy revisited: more neurogenic and less benign;Hewer;Brain,2007

3. The chorea of McLeod syndrome;Danek;Mov Disord,2001

4. An unusual phenotype of McLeod syndrome with late onset axonal neuropathy;Wada;J Neurol Neurosurg Psychiatry,2003

5. McLeod neuroacanthocytosis: genotype and phenotype;Danek;Ann Neurol,2001

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Neuroacanthocytosis;Reference Module in Neuroscience and Biobehavioral Psychology;2024

2. A case of McLeod syndrome caused by a nonsense variation c.942G>A in the XK gene: A case report;Frontiers in Genetics;2023-02-01

3. Repository of Enriched Structures of Proteins Involved in the Red Blood Cell Environment (RESPIRE);PLOS ONE;2019-02-22

4. Unmasking of novel mutations within XK gene that could be used as Diagnostic Markers to Predict McLeod syndrome: Using in silico analysis;2019-02-05

5. Molecular Basis and Clinical Overview of McLeod Syndrome Compared With Other Neuroacanthocytosis Syndromes;JAMA Neurology;2018-12-01

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