Novel mutation in ATP-binding domain of ABCD1 gene in adrenoleukodystrophy

J Genet. 2010 Dec;89(4):473-7. doi: 10.1007/s12041-010-0067-1.

Authors

Neeraj Kumar¹, Krishna K Taneja, Atul Kumar, Deepti Nayar, Bhupesh Taneja, Satindra Aneja, Madhuri Behari, Veena Kalra, Surendra K Bansal

Affiliation

¹ Department of Biochemistry, Vallabhbhai Patel Chest Institute, University of Delhi, New Delhi 110 007, India.

PMID: 21273699
DOI: 10.1007/s12041-010-0067-1

No abstract available

Publication types

Case Reports
Comparative Study
Research Support, Non-U.S. Gov't

MeSH terms

ATP Binding Cassette Transporter, Subfamily D, Member 1
ATP-Binding Cassette Transporters / genetics*
Adolescent
Adrenoleukodystrophy / genetics*
Age of Onset
Amino Acid Sequence
Case-Control Studies
Conserved Sequence
DNA Mutational Analysis
Fathers
Heterozygote
Humans
India
Male
Middle Aged
Models, Molecular
Molecular Sequence Data
Mothers
Mutation*
Mutation, Missense
Pedigree
Point Mutation
Protein Structure, Tertiary / genetics
Sequence Homology, Amino Acid

Substances

ABCD1 protein, human
ATP Binding Cassette Transporter, Subfamily D, Member 1
ATP-Binding Cassette Transporters