RP1 in Chinese: Eight novel variants and
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Larry Baum; Wai-Man Chan; Kwun-Yan Yeung; Dennis S.C. Lam; Alvin K.H. Kwok; Chi-
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Article
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2001
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John Wiley and Sons
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English
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Heterozygous truncating mutations in the RP1 gene cause approximately 7% of autosomal dominant retinitis pigmentosa (RP) cases. To examine the role of RP1 mutations in RP, we screened 101 unrelated Chinese RP patients (unselected for mode of inheritance) and 190 elderly normal control subjects for s