Article
First mutation (S340X) in choroideremia gene in a Spanish family. Mutations in brief no. 173. Online.
Human mutation - 1 Jan 1998
Trujillo M J, Sanz R, Rodriguez de Alba M, Lorda I, Ramos C, Ibañez A, García-Sandoval B, Ayuso C
Abstract excerpt
A study of choroideremia gene was performed in Spanish families affected with this disorder. One abnormal pattern was detected in exon eight corresponding to a new mutation not described before. The mutation was identified as a nonsense mutation S340X.
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