Novel missense and frameshift mutations in the adrenoleukodystrophy gene

Jpn J Hum Genet. 1996 Dec;41(4):407-11. doi: 10.1007/BF01876331.

Authors

H Ueyama¹, T Yamano, M Shimada, I Ohkubo

Affiliation

¹ Department of Medical Biochemistry, Shiga University of Medical Science, Otsu, Japan.

PMID: 9088111
DOI: 10.1007/BF01876331

No abstract available

MeSH terms

ATP Binding Cassette Transporter, Subfamily D, Member 1
ATP-Binding Cassette Transporters / genetics*
Adrenoleukodystrophy / ethnology
Adrenoleukodystrophy / genetics*
Asian People / genetics
Child
Child, Preschool
DNA / analysis
DNA Primers
Exons
Frameshift Mutation / genetics*
Humans
Japan
Male
Membrane Proteins / genetics*
Point Mutation / genetics*
Polymerase Chain Reaction
Sequence Analysis, DNA

Substances

ABCD1 protein, human
ATP Binding Cassette Transporter, Subfamily D, Member 1
ATP-Binding Cassette Transporters
DNA Primers
Membrane Proteins
DNA