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Figure 4 | Orphanet Journal of Rare Diseases

Figure 4

From: A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder

Figure 4

The genomic structure of TMPRSS4 gene consists of 13 coding exons with a nucleotide change in exon 10 (indicated in red) that alters threonine to methionine at residue 332 (T332M). DNA sequence tracings of TMPRSS4 exon 10 in an ARCA affected (top), T332M heterozygote (middle), and an unaffected (bottom) individual. For each tracing, the nucleotide sequence is shown at the top followed by the single-letter amino acid code and codon numbers beneath.

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