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Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II, 158822.0
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Figure 1 Pedigree of the three Chinese families with Usher syndrome type II who had mutations in USH2A. Males and females are represented by squares and circles, respectively. The symbols for affected family member are filled. The symbols for deceased family members have a slash. The symbols for proband have an arrow. The genotype of each evaluated individual is shown below the individuals symbol and identification number. Abbreviations: Wild type (+); c.8559 2A>G (M1); p.T3936P (M2); p.R34fs (M3); p.S2828fs (M4); p.W3150X (M5)..

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Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II
Mol Vis. 2008 Nov 17; 14:2067-2075

Abstract

PurposeUsher syndrome type II (USH2) is the most common form of Usher syndrome, an autosomal recessive disorder characterized by moderate to severe he.....
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Keywords

USH2A

Other images from the same article


Highslide JS
Direct sequencing analysis of the coding region of the USH2A gene...

Article : Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II
Mol Vis. 2008 Nov 17; 14:2067-2075

Click to view details
Highslide JS
Fundus appearance of a patient with Usher syndrome type II...

Article : Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II
Mol Vis. 2008 Nov 17; 14:2067-2075

Click to view details
Highslide JS
Pedigree of the three Chinese families with Usher syndrome type II who had mutations in USH2A...

Article : Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II
Mol Vis. 2008 Nov 17; 14:2067-2075

Click to view details
Highslide JS
Restriction fragment length analysis on the three mutations detected in this study...

Article : Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II
Mol Vis. 2008 Nov 17; 14:2067-2075

Click to view details
Highslide JS
Schematic distribution shows the five novel mutations identified in the current study along the USH2A isoform b protein domains...

Article : Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II
Mol Vis. 2008 Nov 17; 14:2067-2075

Click to view details
Highslide JS
Sequence alignment portion of the 21 FN3 domain spanning the novel missense mutation p...

Article : Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II
Mol Vis. 2008 Nov 17; 14:2067-2075

Click to view details
Highslide JS
Single strand conformation polymorphism analysis for the two mutations identified in the current study...

Article : Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II
Mol Vis. 2008 Nov 17; 14:2067-2075

Click to view details