Adrenomyeloneuropathy: report of a new mutation in a French Canadian female.

Dionne, Annie; Brunet, Denis; McCampbell, Alexander; Dupré, Nicolas

Dionne, Annie; Brunet, Denis; McCampbell, Alexander; Dupré, Nicolas.

Affiliation

Dionne A; Départment des Sciences Neurologiques, CHAUQ-Hôpital Enfant-Jésus, McGill University, QC, Canada.

Can J Neurol Sci ; 32(2): 261-3, 2005 May.

Article in En | MEDLINE | ID: mdl-16018167

Subject(s)

ATP-Binding Cassette Transporters/genetics; Adrenoleukodystrophy/genetics; Mutation, Missense/genetics; ATP Binding Cassette Transporter, Subfamily D, Member 1; Adrenoleukodystrophy/metabolism; Adrenoleukodystrophy/physiopathology; Amino Acid Sequence/genetics; Amino Acid Substitution/genetics; Chromosomes, Human, X/genetics; DNA Mutational Analysis; Diagnosis, Differential; Exons/genetics; Family Health; Female; Genetic Testing; Humans; Middle Aged; Pedigree; Phenotype; Quebec/ethnology; Sex Factors

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Collection: 01-internacional Database: MEDLINE Main subject: ATP-Binding Cassette Transporters / Adrenoleukodystrophy / Mutation, Missense Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Middle aged Country/Region as subject: America do norte Language: En Journal: Can J Neurol Sci Year: 2005 Type: Article Affiliation country: Canada

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