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May 27, 2010Journal of Medical GeneticsOpen Access

Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa

Terri L. McGee B. Jian Seyedahmadi Meredith O. Sweeney T. P. Dryja Eliot L. Berson

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Abstract

At least one mutation was identified in 57-63% of USH2 cases and 19-23% of cases of non-syndromic recessive RP (calculated without and including probable/possible deleterious changes) thus supporting that USH2A is the most common known cause of RP in the USA.

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Cite This Study

McGee et al. (2010) studied this question.

synapsesocial.com/papers/69d96161c7f0c3ae80a3d452 https://doi.org/10.1136/jmg.2009.075143

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