TY - GEN AU - Trujillo,M J AU - Sanz,R AU - Rodriguez de Alba,M AU - Lorda,I AU - Ramos,C AU - Ibañez,A AU - García-Sandoval,B AU - Ayuso,C TI - First mutation (S340X) in choroideremia gene in a Spanish family. Mutations in brief no. 173. Online SN - 1059-7794 PY - 2000///0124 KW - Choroideremia KW - genetics KW - Codon, Nonsense KW - Humans KW - Mutation KW - Spain N1 - Publication Type: Journal Article; Research Support, Non-U.S. Gov't ER -