Identification of a new frameshift mutation (1801delAG) in the ALD gene.
Servei de Genètica, Hospital Clínic, Barcelona, Spain.
A
A
Barceló
M
M
Girós
C O
CO
Sarde
A
A
Martínez-Bermejo
J L
JL
Mandel
T
T
Pàmpols
X
X
Estivill
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