Identification of a new frameshift mutation (1801delAG) in the ALD gene.
Barceló
A
A
Servei de Genètica, Hospital Clínic, Barcelona, Spain.
Girós
M
M
Sarde
C O
CO
Martínez-Bermejo
A
A
Mandel
J L
JL
Pàmpols
T
T
Estivill
X
X
D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000235:genetics* / Q000378:metabolism; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D005091:Exons; D005230:Fatty Acids, Nonesterified / Q000097:blood / Q000378:metabolism; D005347:Fibroblasts / Q000378:metabolism; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D012016:Reference Values
C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D005230:Fatty Acids, Nonesterified; D008565:Membrane Proteins