High frequency of alkaptonuria in Slovakia: Evidence for the appearance of multiple mutations in HGO involving different mutational hot spots

American Journal of Human Genetics

Volumn 67, Issue 5, 2000, Pages 1333-1339

  Zatková, Andrea ^a   De Bernabé, Daniel Beltrán Valero ^b,c   Polálková, Helena ^a   Zvarík, Marek ^a   Ferálková, Eva ^a   Bošák, Vladimir ^d   Ferák, Vladimír ^a   Kádasi, L’udovít ^a   De Córdoba, Santiago Rodríguez ^b,c  

^a Physics and Informatics   (Spain)

^b Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^c CENTRO DE INVESTIGACIONES BIOLÓGICAS   (Spain)

^d Research Institute of Rheumatic Disease   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ALKAPTONURIA; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME ANALYSIS; ETHNIC GROUP; GENE; GENE MUTATION; GENE POOL; GENETIC POLYMORPHISM; GEOGRAPHIC DISTRIBUTION; HUMAN; INCIDENCE; PEDIGREE; PRIORITY JOURNAL; SLOVAKIA;

CYANEA ANGUSTIFOLIA; KATSUWONUS PELAMIS;

EID: 0033754213     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9297(07)62964-4     Document Type: Article

References (24)

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3. Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO)
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