Novel human pathological mutations. Gene symbol: ABCD1. Disease: Adrenoleukodystrophy.
Shukla
Pallavi
P
Pediatrics (Genetic unit), All India Institute of Medical Sciences, New Delhi, India. pallavi15july@rediffmail.com
Gupta
Neerja
N
Kabra
Madhulika
M
Ghosh
Manju
M
Gulati
Sheffali
S
Kalra
Veena
V
D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000235:genetics*; D001483:Base Sequence; D003062:Codon; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005091:Exons; D006801:Humans; D007194:India; D008969:Molecular Sequence Data; D009711:Nucleotides / Q000235:genetics*
C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D003062:Codon; D018389:Codon, Nonsense; D009711:Nucleotides