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. 2013 Jun 12;22(2):197–201. doi: 10.1038/ejhg.2013.123

Table 2. PRG4 gene mutations identified.

Patientsa Location Mutation at cDNA level Deduced mutation at protein level
1 Exon 6 c.2754_2758delGACAA p.Lys918Asnfs*10
2 Intron 8 c.3636+3A>G p.Hys1168Phefs*9
3, 11 and 12 Exon 10 c.3894_3898delGGTTA p.Val1299Glufs*5
4 Exon 6 c.1982_1983delCT p.Pro661Argfs*17
5 and 6 Exon 9 c.3648C>A p.Tyr1216*
10 Exon 6 c.2153delA p.Lys718Argfs*194
a

The identification number of the patients is the one stated in Table 1. *indicate a translation termination codon.