C. Reig

A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy.

M. Vidal, J. Arumí, E. Geán, 1995, Ophthalmic genetics.

New mutation in the 3′‐acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family

M. Carballo, R. Martin, A. I. Alvarez, 1996, Human mutation.

Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa

C. Ayuso, C. Ramos, E. Geán, 1994, Human Genetics.

A missense mutation (211His-->Arg) and a silent (160Thr) mutation within the rhodopsin gene in a spanish autosomal dominant retinitis pigmentosa family.

J. Reventós, E. Geán, M. Carballo, 1994, Human molecular genetics.

Homozygous and heterozygous Gly-188-Arg mutation of the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa

C. Ayuso, M. Carballo, M. Martínez-Gimeno, 2000, Ophthalmic genetics.

G106R rhodopsin mutation is also present in Spanish ADRP patients.

S. Borrego, G. Antiñolo, C. Ayuso, 1996, Ophthalmic genetics.

[Identification of 2 allelic mutations of the gene of the phosphodiesterase beta subunit in a Spanish family with recessive autosomic retinitis pigmentosa].

D. Valverde, R. Gonzàlez-Duarte, M. Calaf, 1998, Medicina clinica.