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