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Friedreich ataxia is usually caused by an expansion of a GAA trinucleotide repeat in intron 1 of the FRDA gene. Occasionally, a fully expanded allele has been found to arise from a premutation of 100 or less triplet repeats. We have examined the sperm DNA of a premutation carrier. This man's leucocyte DNA showed one normal allele and one allele of(More)
OBJECTIVES To develop a standard for safe patient referral from emergency medicine (EM) staff to hospital inpatient specialities; to audit adherence to that standard, and from this audit, to identify potential risk areas in this aspect of patient care; to make recommendations for reducing such risks; and to implement those recommendations. METHOD A(More)
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