| |
| | Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic ... |
 | | Figure 1 Pedigrees of ARRP families with mutations in the USH2A gene. |
 | | Bayés M, Giordano M, Balcells S, Grinberg D, Vilageliu Ll, Martinez I, Ayuso C, Benitez J, Ramos-Arroyo MA, Chivelet P, Solans T, Valverde D, Anselem S, Goossens M, Baiget M, González R, Besmond C. Homozygous tandem duplication within the gene encoding the beta subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa. |
 | | Valverde D, Solans T, Grinberg D, Balcells S, Vilageliu LI, Bayés M, Chivelet P, Besmond C, Goossens M, Gonzalez-Duarte R, Baiget M. A novel mutation in exon 17 of the ß subunit of rod phosphodiesterase in two RP sisters of a consanguineous family. |
| jmg.bmjjournals.com /cgi/content/full/40/1/e8 (2633 words) |
|