Mutations in the holocarboxylase synthetase gene HLCS

Human Mutation

Volumn 26, Issue 4, 2005, Pages 285-290

  Suzuki, Yoichi ^a,b   Yang, Xue ^a   Aoki, Yoko ^a   Kure, Shigeo ^a   Matsubara, Yoichi ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b CHIBA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Biotin; HLCS; Holocarboxylase synthetase; Multiple carboxylase deficiency

Indexed keywords

BIOTIN; CARBOXYLASE; COMPLEMENTARY DNA; HISTONE; HOLOCARBOXYLASE SYNTHETASE; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; AUTOSOMAL RECESSIVE DISORDER; CATALYSIS; DISORDERS OF CARBOHYDRATE METABOLISM; DNA SEQUENCE; ENZYME ANALYSIS; EXON; GENE; GENE DELETION; GENE INSERTION; GENE MUTATION; HAPLOTYPE; HLCS GENE; HUMAN; HUMAN CELL; INTRON; JAPAN; MISSENSE MUTATION; NULL ALLELE; POINT MUTATION; PREVALENCE; PRIORITY JOURNAL; RECURRENT DISEASE; REVIEW;

BIOTIN; CARBON-NITROGEN LIGASES; FOUNDER EFFECT; GENOTYPE; HUMANS; MODELS, GENETIC; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC;

EID: 25444442591     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20204     Document Type: Review

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