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

Open Access

Peer-reviewed

Research Article

Neeraj Kumar,

Affiliation Department of Biochemistry, Vallabhbhai Patel Chest Institute, University of Delhi, Delhi, India
⨯
Krishna Kant Taneja,

Affiliation Functional Genomics Unit, Institute of Genomics and Integrative Biology, Delhi, India
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Veena Kalra,

Affiliation Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
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Madhuri Behari,

Affiliation Department of Neurology, All India Institute of Medical Sciences, New Delhi, India
⨯
Satinder Aneja,

Affiliation Department of Pediatrics, Lady Hardinge Medical College and associated Kalawati Balsaran Children Hospital, University of Delhi, Delhi, India
⨯
Surendra Kumar Bansal

* E-mail: bansalsurendrak@yahoo.com

Affiliation Department of Biochemistry, Vallabhbhai Patel Chest Institute, University of Delhi, Delhi, India
⨯

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Adrenoleukodystrophy
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Point mutation
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Mutation
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Frameshift mutation
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Mutation detection
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Mutation databases
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Single nucleotide polymorphisms
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Nonsense mutation
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