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. Author manuscript; available in PMC: 2017 Aug 29.

Published in final edited form as: J Proteome Res. 2016 Dec 9;16(2):862–871. doi: 10.1021/acs.jproteome.6b00828

Table 3.

ATP7B 1056 peptide concentration in 13 DBS samples from WD patients.

Sample	ATP7B 1056 (pmol/L)	Mutation
WD01	29.5	p.R778W and p.T977M
WD02	ND^a	p.H1069Q and p.R1319*
WD03	ND	p.H1069Q and p.R1319*
WD04	ND	not available at this time
WD05	ND	p.R778L Homozygote
WD06	ND	p.C2304_2305insc and p.L1083F
WD07	NA^b	p.R778L and p.A874V
WD08	244.8	p.Thr974Met and p.Ser391 Leu
WD09	ND	p.R778G and p.K175S_fs/p.Q260P_fs
WD10	ND	p.R778G and p.K175S_fs/p.Q260P_fs
WD11	ND	p.R778L and p.E1064A
WD12	ND	p.R778L and p.E1064A
WD13	ND	p.H1069Q and p.Y1331Tfs*61

Controls (N=12)	320.9 ± 147.4

^a

ND, not detected

^b

NA, not applicable due to S/N <10