A Novel <i>COL4A5</i> Mutation Identified in a Chinese Han Family Using Exome Sequencing

<table>Pedigree of the family with X-linked Alport syndrome. N: normal, M:<i> COL4A5</i> c.499delC (p.Pro167Gln<svg height="18.1875" id="M4" style="vertical-align:-2.34499pt" version="1.1" viewbox="0 0 25.025 18.1875" width="25.025" xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink">
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q-97 56 -97 123q0 50 51 96q19 17 58 32.5t62 15.5q37 0 61 -18t24 -39z" id="x1D460"></path></g>
<g transform="matrix(.012,-0,0,-.012,17.35,5.525)"><path d="M471 153q-22 -15 -61 -13q-25 31 -45.5 49.5t-56.5 41.5q4 -71 28 -134q-17 -33 -42 -46q-24 12 -42 46q24 63 28 134q-36 -23 -56.5 -41.5t-45.5 -49.5q-36 -2 -61 13q0 28 19 59q65 10 130 43q-65 33 -130 43q-19 31 -19 59q22 15 61 13q25 -31 45.5 -49.5t56.5 -41.5
q-4 71 -28 134q17 33 42 46q24 -12 42 -46q-24 -63 -28 -134q36 23 56.5 41.5t45.5 49.5q36 2 61 -13q0 -28 -19 -59q-65 -10 -130 -43q65 -33 130 -43q19 -31 19 -59z" id="x2217"></path></g>
</svg>36) mutation.</table>

BioMed Research International

fig1

Figure 1

Figure 1: A Novel <i>COL4A5</i> Mutation Identified in a Chinese Han Family Using Exome Sequencing 

BioMed Research International

A Novel COL4A5 Mutation Identified in a Chinese Han Family Using Exome Sequencing

Figure 1