Coll, M J

X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females. [electronic resource] - Clinical genetics May 2005 - 418-24 p. digital

Publication Type: Journal Article

0009-9163

10.1111/j.1399-0004.2005.00423.x doi


ATP Binding Cassette Transporter, Subfamily D, Member 1
ATP-Binding Cassette Transporters--genetics
Adrenoleukodystrophy--diagnosis
Adult
DNA Mutational Analysis
Fatty Acids--genetics
Female
Genetic Counseling
Genotype
Humans
Male
Pedigree
Phenotype
Polymorphism, Genetic
Spain