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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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| Autors principals: | , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2011
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| Matèries: | |
| Accés en línia: | 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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