First mutation (S340X) in choroideremia gene in a Spanish family. Mutations in brief no. 173. Online.
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.
Trujillo
M J
MJ
Department of Genetics, Fundación Jiménez Díaz, Madrid. gentical@uni.fjd.es
Sanz
R
R
Rodriguez de Alba
M
M
Lorda
I
I
Ramos
C
C
Ibañez
A
A
García-Sandoval
B
B
Ayuso
C
C
D015794:Choroideremia / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics*; D013030:Spain
D018389:Codon, Nonsense