title: Novel human pathological mutations. Gene symbol: ABCD1. Disease: Adrenoleukodystrophy.
authors.affiliation: Pediatrics (Genetic unit), All India Institute of Medical Sciences, New Delhi, India. pallavi15july@rediffmail.com
authors.forename: Pallavi
authors.initials: P
authors.lastname: Shukla
authors.forename: Neerja
authors.initials: N
authors.lastname: Gupta
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
authors.forename: Manju
authors.initials: M
authors.lastname: Ghosh
authors.forename: Sheffali
authors.initials: S
authors.lastname: Gulati
authors.forename: Veena
authors.initials: V
authors.lastname: Kalra
mesh_terms: 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*
chemical_list: 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