Published in Proteomics Weekly, October 19th, 2009
"We report on two Saudi girls with PNP deficiency. Both showed severe lymphopenia and neurological involvement. Sequencing of the PNP gene of one girl revealed a novel missense mutation Pro146 >Leu in exon 4 due to a change in the codon from CCT >CTT," wrote A. Alangari and colleagues, King Saud University, Medical Department.
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