Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange

Human Mutation

Volumn 18, Issue 1, 2001, Pages 52-60

  Dvorakova L ^a   Torkanova G ^a   Unterrainer, G ^c   Hujova J ^a   Kmoch, S ^a,b   Zeman, J ^a   Hrebicek M ^a,b   Berger, J ^c  

^a General Teaching Hospital and 1st Medical Faculty of Charles University   (Czech Republic)

^b Center for Integrated Genomics   (Czech Republic)

^c UNIVERSITY OF VIENNA   (Austria)

Author keywords

ABCD1; Addison disease; Adrenoleukodystrophy; Adrenomyeloneuropathy; ALDP; Neurodegeneration; Peroxisome; Very long chain fatty acid; VLCFA; X ALD; X linked

Indexed keywords

COMPLEMENTARY DNA; GENE PRODUCT; PROTEIN ABCD1; UNCLASSIFIED DRUG; VERY LONG CHAIN FATTY ACID;

ADDISON DISEASE; ADOLESCENT; ADRENOLEUKODYSTROPHY; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CZECH REPUBLIC; DNA POLYMORPHISM; FAMILY; FATTY ACID OXIDATION; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; HUMAN CELL; MALE; NERVE DEGENERATION; NUCLEOTIDE SEQUENCE; PEROXISOME; POINT MUTATION; PRIORITY JOURNAL; SLOVAKIA; X CHROMOSOME LINKAGE;

5' UNTRANSLATED REGIONS; ADOLESCENT; ADRENOLEUKODYSTROPHY; ADULT; ALLELES; AMINO ACID MOTIFS; ATP-BINDING CASSETTE TRANSPORTERS; CHILD; CONSERVED SEQUENCE; CZECH REPUBLIC; DNA MUTATIONAL ANALYSIS; EXONS; FATTY ACIDS; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OXIDATION-REDUCTION; PALMITIC ACID; PHENOTYPE; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; SLOVAKIA; X CHROMOSOME;

EID: 0034949630     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.1149     Document Type: Article

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