Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS-peripherin gene in autosomal dominant macular dystrophies in Spanish families

✍ Scribed by María José Trujillo; María Martinez-Gimeno; Ascensión Giménez; Isabel Lorda; José Bueno; Blanca García-Sandoval; Carmen Ramos; Miguel Carballo; Carmen Ayuso

• Publisher: John Wiley and Sons
• Year: 2000
• Tongue: English
• Weight: 11 KB
• Volume: 17
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/1098-1004(2001)17:1<80::aid-humu27>3.0.co;2-g