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Genomic Profiling Identifies Novel Mutations and SNPs in ABCD1 Gene: A Molecular, Biochemical and Clinical Analysis of X-ALD Cases in India

X-linked adrenoleukodystrophy (X-ALD) affects the nervous system white matter and adrenal cortex secondary to mutations in the ABCD1 gene that encode the peroxisomal membrane protein. We conducted a genomic and protein expression study of susceptibility gene with its clinical and biochemical analysi...

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Detalles Bibliográficos
Autores principales: Kumar, Neeraj, Taneja, Krishna Kant, Kalra, Veena, Behari, Madhuri, Aneja, Satinder, Bansal, Surendra Kumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3178599/
https://www.ncbi.nlm.nih.gov/pubmed/21966424
http://dx.doi.org/10.1371/journal.pone.0025094