Identification of two new nonsense mutations (Q311X and W326X) in Exon 2 of the adrenoleukodystrophy (ALD) gene.
Servei de Genètica, Hospital Clínic, Barcelona, Spain.
A
A
Barceló
M
M
Girós
V J
VJ
Albiach
J
J
Vaquerizo
T
T
Pàmpols
X
X
Estivill
D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000235:genetics*; D000328:Adult; D002648:Child; D003596:Cytosine; D017931:DNA Primers; D015252:Deoxyribonucleases, Type II Site-Specific; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009679:Nuclear Family; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D013941:Thymine
C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D017931:DNA Primers; D008565:Membrane Proteins; D003596:Cytosine; C040836:CTAG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific; D013941:Thymine