A spontaneous novel XK gene mutation in a patient with McLeod syndrome
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2141.2001.03121.x/fullpdf
Reference12 articles.
1. Unusual muscle pathology in McLeod syndrome;Barnett;Journal of Neurology, Neurosurgery and. Psychiatry,2000
2. McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene;Dotti;Movement Disorders,2000
3. The 1993-94 Genethon human genetic linkage map;Gyapay;Nature Genetics,1994
4. A novel frameshift mutation in the McLeod syndrome gene in a Japanese family;Hanaoka;Journal of the Neurological Sciences,1999
5. Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein;Ho;Cell,1994
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1. The protean presentations of XK disease (McLeod syndrome): a case series with new observations and updates on previously reported families;Frontiers in Neuroscience;2024-09-09
2. Xp21 DNA microdeletion syndrome in a Chinese family: clinical features show retinitis pigmentosa and chronic granuloma;Frontiers in Genetics;2024-01-26
3. 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
4. McLeod syndrome: Five new pedigrees with novel mutations;Parkinsonism & Related Disorders;2019-07
5. Roles and regulation of phospholipid scramblases;FEBS Letters;2014-12-03
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