Catherine Costa

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Approximately 30% of alleles causing genetic disorders generate premature termination codons (PTCs), which are usually associated with severe phenotypes. However, bypassing the deleterious stop codon can lead to a mild disease outcome. Splicing at NAGNAG tandem splice sites has been reported to result in insertion or deletion (indel) of three nucleotides.(More)
BACKGROUND Mutations in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene have been widely detected in infertile men with congenital bilateral absence of the vas deferens (CBAVD). Despite extensive analysis of the CFTR gene using varied screening methods, a number of cases remain unsolved and could be attributable to the presence of(More)
Haemophilia A is an X-linked bleeding disorder caused by a wide range of mutations in the factor VIII (F8) gene. About one third [1] of cases are due to a mutation. The majority are thought to occur in a single germ cell but some, occurring during early de novo embryogenesis, produce a germline and/or somatic mosaic. In haemophilia, somatic mosaicism has(More)
Fukuyama congenital muscular dystrophy (FCMD) is one of the most common autosomal recessive diseases among the Japanese population, due to a founder mutation of the fukutin gene (FKTN). Mutations in FKTN are now being described in an increasing number of non-Japanese patients. We report a Portuguese child with FCMD. The diagnosis was supported by clinical,(More)
To the Editor: Gene deletions are common events in various hereditary diseases, but conventional PCR often fails to detect such defects in heterozygous patients (1). This highlights the need for a suitable method, easily applicable in a diagnostic laboratory (2). Large deletions account for ϳ5% of cases of hemophilia, inherited as a recessive X-linked(More)
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