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Fig. 4 | Orphanet Journal of Rare Diseases

Fig. 4

From: Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients

Fig. 4

USH patients are highly enriched in patients with two severe alleles. Patients with USH2A mutations were classified based on number of severe alleles (frameshift mutations, splicing site mutations and nonsense mutations). Enrichment of patients with two severe mutations is significant (Fisher exact test, p-value < 0.0001) in two independent USH patients cohorts (USH patients in this study [30]) compared to that of RP patients

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172