Two McLeod patients with novel mutations in XK

McLeod syndrome (MLS) is a rare, X-linked, late-onset, disease involving hematological, brain, and neuromuscular systems, caused by mutations in XK that result in either defective XK or complete loss of XK protein. Acanthocytosis of erythrocytes is a typical feature. We report novel mutations in two...

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Huvudupphovsmän: Dubielecka, Patrycja M., Hwynn, Nelson, Sengun, Cenk, Lee, Soohee, Lomas-Francis, Christine, Singer, Carlos, Fernandez, Hubert H., Walker, Ruth H.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2011
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3337778/
https://ncbi.nlm.nih.gov/pubmed/21463873
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jns.2011.02.028
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