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First mutation (S340X) in choroideremia gene in a Spanish family. Mutations in brief no. 173. Online.
M J Trujillo
1 ,
R Sanz ,
M Rodriguez de Alba ,
I Lorda ,
C Ramos ,
A Ibañez ,
B García-Sandoval ,
C Ayuso
1998
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Abstract
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.