Abstract
The authors present two new missense mutations in exon 1 of the adrenoleukodystrophy (ALD) gene. The first, a C813T transition, results in the substitution Pro143 Ser in the third putative transmembrane domain of the adrenoleukodystrophy protein (ALDP) in an adult onset case. The second, a de novo C709T transition, results in a substitution Ser 108 Leu between the second and the third putative transmembrane segments, in a childhood case.
Copyright 1999 Academic Press.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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ATP Binding Cassette Transporter, Subfamily D, Member 1
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ATP-Binding Cassette Transporters / genetics*
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Adrenoleukodystrophy / genetics*
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Adult
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Child
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Female
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Humans
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Italy
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Leucine / genetics
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Male
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Membrane Proteins / genetics*
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Mutation, Missense*
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Pedigree
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Proline / genetics
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Serine / genetics
Substances
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ABCD1 protein, human
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ATP Binding Cassette Transporter, Subfamily D, Member 1
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ATP-Binding Cassette Transporters
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Membrane Proteins
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Serine
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Proline
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Leucine