Article
Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy.
PloS one - 1 Jan 2012
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
Abstract excerpt
UNLABELLED: 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 patients from Brazil, Argentina and Uruguay were invited to participate in molecular studies to...
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