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Fig. 2 | BMC Medical Genetics

Fig. 2

From: A novel mutation in the STK11 gene causes heritable Peutz-Jeghers syndrome - a case report

Fig. 2

A novel mutation (c.440_441delGT, p.Arg147Leufs*15) in STK11 was discovered. a Representative graphs of DNA sequencing surrounding the heterozygous mutation c.440_441delGT. b (Left) Schematics of the secondary structure or functional domains of the STK11 protein. NLS, Nuclear localization signal, NRD or CRD, N- or C-terminal regulatory domain. (Right) Images of the results of allele-specific reverse-transcription-polymerase chain reaction. WT, wild-type; MT, mutant. c Examination of the expression of unaffected STK11 protein, as well of the phosphorylation levels at threonine 172 in AMPKα. Ctrl-L, circulating leukocytes from controls (II1,II4, II6, III5,I1, II8, III9, III10); PJS-L, circulating leukocytes from the four patients (II3, II7, III4, III6); PJS-P, PJ polyps from III6. Unpaired 2-tailed Student’s t test was employed

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