Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in India.

Kumar, Neeraj; Taneja, Krishna Kant; Kalra, Veena; Behari, Madhuri; Aneja, Satinder; Bansal, Surendra Kumar

Kumar, Neeraj; Taneja, Krishna Kant; Kalra, Veena; Behari, Madhuri; Aneja, Satinder; Bansal, Surendra Kumar.

Affiliation

Kumar N; Department of Biochemistry, Vallabhbhai Patel Chest Institute, University of Delhi, Delhi, India.

PLoS One ; 6(9): e25094, 2011.

Article in En | MEDLINE | ID: mdl-21966424

Subject(s)

ATP-Binding Cassette Transporters/genetics; ATP-Binding Cassette Transporters/metabolism; Adrenoleukodystrophy/genetics; Adrenoleukodystrophy/metabolism; Polymorphism, Single Nucleotide/genetics; ATP Binding Cassette Transporter, Subfamily D, Member 1; Adolescent; Blotting, Western; Cell Line; Child; Child, Preschool; Female; Germ-Line Mutation/genetics; Humans; India; Male; Mutation; Mutation, Missense; Young Adult

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Full text: 1 Database: MEDLINE Main subject: ATP-Binding Cassette Transporters / Adrenoleukodystrophy / Polymorphism, Single Nucleotide Type of study: Prognostic_studies Country/Region as subject: Asia Language: En Journal: PLoS One Year: 2011 Type: Article Affiliation country: India

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