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P0 ad point - PowerPoint PPT Presentation

1) SMAs

1) SMAs. 1a) SMN gene on 5q11.2-13.3 AR carrier frequency 1 / 40 Total incidence 1 / 6,000 births Tested for locally SMA I (Werdnig-Hoffman) ~ 1 / 20,000 carrier rate ~ 1 / 80 - onset <6 months (may be in utero ) - death usually <2 years (intercostal type

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P0 ad point - PowerPoint PPT Presentation

1) SMAs