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).

We recently showed that alkaptonuria (AKU) is caused by loss-of-function mutations in the homogentisate 1,2 dioxygenase gene (HGO). Herein we describe haplotype and mutational analyses of HGO in seven new AKU pedigrees. These analyses identified two novel single-nucleotide polymorphisms (INV4+31A--&...

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Main Authors: Beltrán-Valero de Bernabé, D, Jimenez, F J, Aquaron, R, Rodríguez de Córdoba, S
Formato: Artigo
Idioma:Inglês
Publicado: 1999
Assuntos:
Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377867/
https://ncbi.nlm.nih.gov/pubmed/10205262
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