PRKDC mutations in a SCID patient with profound neurological abnormalities.
Woodbine L; Neal JA; Sasi NK; Shimada M; Deem K; Coleman H; Dobyns WB; Ogi T; Meek K; Davies EG; Jeggo PA; The Journal Of Clinical Investigation, 2013, vol. 123, issue 7, p 2969, ISSN 15588238. ISBN 15588238.

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