Carregant...

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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Dubielecka, Patrycja M., Hwynn, Nelson, Sengun, Cenk, Lee, Soohee, Lomas-Francis, Christine, Singer, Carlos, Fernandez, Hubert H., Walker, Ruth H.
Format: Artigo
Idioma:Inglês
Publicat: 2011
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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!