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

Clinical Genetics

Volumn 67, Issue 5, 2005, Pages 418-424

  Coll, M J ^a   Palau, N ^a   Camps, C ^a   Ruiz, M ^a   Pampols T ^a   Giros M ^a  

^a Institut de Bioquimica Clinica Barcelona   (Spain)

Author keywords

Genetic counseling; Mutations; X ALD

Indexed keywords

ABC TRANSPORTER; VERY LONG CHAIN FATTY ACID;

ABCD1 GENE; ADRENOLEUKODYSTROPHY; ARTICLE; FEMALE; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PHENOTYPIC VARIATION; PREDICTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SPAIN; X CHROMOSOME LINKED DISORDER;

ADRENOLEUKODYSTROPHY; ADULT; ATP-BINDING CASSETTE TRANSPORTERS; DNA MUTATIONAL ANALYSIS; FATTY ACIDS; FEMALE; GENETIC COUNSELING; GENOTYPE; HUMANS; MALE; PEDIGREE; PHENOTYPE; POLYMORPHISM, GENETIC; SPAIN;

EID: 17644384467     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2005.00423.x     Document Type: Article

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