Table 2 of Dai, Mol Vis 2008; 14:2067-2075.

Table 2. Novel mutations in USH2A identified in this study

DNA change Exon Protein
change		 Type of
nucleotide
change		 Family
number		 Frequency
c.99_100insT 2 p.R34fs Heterozygous F4 0/200
c.8483delC 42 p.S2828fs Heterozygous F5 0/200
c.8559–2A>G 43 Exon43DEL Heterozygous F3,F4 0/200
c.9450G>A 48 p.W3150X Heterozygous F5 0/200
c.11806A>C 61 p.T3936P Heterozygous F3 0/200

The "Frequency" column, shows the number of chromosomes.

Dai, Mol Vis 2008; 14:2067-2075. http://www.molvis.org/molvis/v14/a243

©2008 Molecular Vision http://www.molvis.org/molvis/

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