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Genetics
Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome and the HPRT1 spectrum for the FRACP written exam: purine salvage and urate overproduction, residual enzyme activity and phenotype, partial HPRT deficiency in young men with gout, biochemical and carrier testing, dystonia and self-injury, …
3 lessons and 0 exam-style questions, written for the RACP Divisional Written Exam
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