Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia

American Journal of Human Genetics

Volumn 83, Issue 5, 2008, Pages 643-648

  Edvardson, Simon ^a   Hama, Hiroko ^b   Shaag, Avraham ^a   Gomori, John Moshe ^a   Berger, Itai ^a   Soffer, Dov ^a   Korman, Stanley H ^a   Taustein, Ilana ^a   Saada, Ann ^a   Elpeleg, Orly ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ENZYME; FATTY ACID; FATTY ACID 2 HYDROXYLASE; GALACTOLIPID; GALACTOSYLCERAMIDE; LIPID; MYELIN PROTEIN; SULFATIDE; UNCLASSIFIED DRUG;

ADULT; ANIMAL CELL; ARTICLE; CLINICAL ARTICLE; COGNITIVE DEFECT; DYSTONIA; FA2H GENE; FEMALE; GENE; GENE MUTATION; GLIA CELL; HOMOZYGOSITY; HUMAN; HYDROXYLATION; LEUKODYSTROPHY; MALE; MYELINATION; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; SPASTIC PARAPLEGIA; SPASTICITY; WHITE MATTER;

ADOLESCENT; AGE OF ONSET; CASE-CONTROL STUDIES; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 16; CONSANGUINITY; DYSTONIA; FEMALE; GENETIC MARKERS; HAPLOTYPES; HOMOZYGOTE; HUMANS; LEUKODYSTROPHY, GLOBOID CELL; MALE; MICROSATELLITE REPEATS; MIXED FUNCTION OXYGENASES; MUTATION; PARAPARESIS, SPASTIC; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; YOUNG ADULT;

EID: 55049092207     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2008.10.010     Document Type: Article

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