Friday, August 13, 2010

A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance

Rio Frio T, McGee TL, Wade NM, Iseli C, Beckmann JS, Berson EL, Rivolta C.
Hum Mutat. 2009 Sep;30(9):1340-7.PMID: 19618371
A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance.

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