An update on molecular genetics of Alkaptonuria (AKU)

Journal of Inherited Metabolic Disease

Volumn 34, Issue 6, 2011, Pages 1127-1136

  Zatkova, Andrea ^a,b  

^a INSTITUTE OF MOLECULAR PHYSIOLOGY AND GENETICS   (Slovakia)

^b Physics and Informatics   (Slovakia)

Author keywords

[No Author keywords available]

Indexed keywords

HOMOGENTISATE 1,2 DIOXYGENASE; HOMOGENTISIC ACID;

ALKAPTONURIA; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CRYSTAL STRUCTURE; DNA DETERMINATION; DNA POLYMORPHISM; ENZYME STRUCTURE; GENE; GENE EXPRESSION REGULATION; GENE FUNCTION; GENE MAPPING; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HOMOGENTISATE 1,2 DIOXYGENASE GENE; HOMOZYGOSITY; HUMAN; MOLECULAR CLONING; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PATHOGENESIS; POPULATION GENETIC STRUCTURE; PROTEIN FUNCTION; RARE DISEASE; SLOVAKIA;

ALKAPTONURIA; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 3; DNA MUTATIONAL ANALYSIS; DOMINICAN REPUBLIC; GENETICS, POPULATION; GENOTYPE; HOMOGENTISATE 1,2-DIOXYGENASE; HOMOGENTISIC ACID; HUMANS; INCIDENCE; JOINT DISEASES; MUTATION; OCHRONOSIS; PHENOTYPE; SLOVAKIA; TOPOGRAPHY, MEDICAL; WORLD HEALTH;

EID: 82955233019     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9363-z     Document Type: Article

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