Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy

In this study, we analyzed the ABCD1 gene in X-linked adrenoleukodystrophy (X-ALD) patients and relatives from 38 unrelated families from South America, as well as phenotypic proportions, survival estimates, and the potential effect of geographical origin in clinical characteristics. METHODS: X- ALD...

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Detalles Bibliográficos
Autores principales: Pereira, Fernanda dos Santos, Matte, Ursula, Habekost, Clarissa Troller, de Castilhos, Raphael Machado, El Husny, Antonette Souto, Lourenço, Charles Marques, Vianna-Morgante, Angela M., Giuliani, Liane, Galera, Marcial Francis, Honjo, Rachel, Kim, Chong Ae, Politei, Juan, Vargas, Carmen Regla, Jardim, Laura Bannach
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315551/
https://www.ncbi.nlm.nih.gov/pubmed/22479560
http://dx.doi.org/10.1371/journal.pone.0034195

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