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Pierre A. Coulombe, Michelle L. Kerns, Elaine Fuchs
Published in Volume 119, Issue 7
J Clin Invest. 2009; 119(7):1784–1793 doi:10.1172/JCI38177
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Figure 4
Distribution of mutations in K5 and K14 as a function of disease variant in EB simplex.

(A) Histogram depicting the number of cases of mutations in K5 and K14 as a function of EB simplex variant. The category “Others” corresponds to the aggregate of most other variants of the disease, excluding EBS-MD (see Table 1). (B) Distribution of mutations as a function of position within K5 and K14 and clinical variant of the disease. See main text and Figure 1 for information about keratin protein secondary structure. Each entry consists of three numbers: the top one is the total number of mutations; the bottom left number is the subset of these mutations that affect K5; and the bottom right number is the subset of these mutations that affect K14. “None” indicates the absence of mutations for this region of K5 or K14. Red numbers convey the occurrence of a bias toward either K5 or K14. The data are derived from ref. 11. EBS-AR, EB simplex autosomal recessive; EBS-gen, EBS-generalized; EBS-local, EBS-localized; HIM, helix initiation motif; HTM, helix termination motif.