Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).
Fuchs
S
S
Institut für Humagenetik, Medizinische Universität, Lübeck, Germany.
Sarde
C O
CO
Wedemann
H
H
Schwinger
E
E
Mandel
J L
JL
Gal
A
A
D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D017124:Conserved Sequence; D017931:DNA Primers; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D014960:X Chromosome
C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D003062:Codon; D017931:DNA Primers; D008565:Membrane Proteins