TY  - GEN
AU  - Coll,M J
AU  - Palau,N
AU  - Camps,C
AU  - Ruiz,M
AU  - Pàmpols,T
AU  - Girós,M
TI  - 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
SN  - 0009-9163
PY  - 2005///0712
KW  - ATP Binding Cassette Transporter, Subfamily D, Member 1
KW  - ATP-Binding Cassette Transporters
KW  - genetics
KW  - Adrenoleukodystrophy
KW  - diagnosis
KW  - Adult
KW  - DNA Mutational Analysis
KW  - Fatty Acids
KW  - Female
KW  - Genetic Counseling
KW  - Genotype
KW  - Humans
KW  - Male
KW  - Pedigree
KW  - Phenotype
KW  - Polymorphism, Genetic
KW  - Spain
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1111/j.1399-0004.2005.00423.x
ER  -