Mutational analysis of an X-linked adrenoleukodystrophy (ALD) patient with detectable ALD protein.
Jorge
P
P
Unidade de Enzimologia, Instituto Genética Médica Jacinto de Magalhães, Porto, Portugal.
Brites
P
P
Nogueira
A
A
Aubourg
P
P
D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics* / Q000378:metabolism; D000326:Adrenoleukodystrophy / Q000235:genetics*; D005260:Female; D019084:Fluorescent Antibody Technique, Indirect; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D014960:X Chromosome
C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D008565:Membrane Proteins