A heterozygous novel C253Y mutation in the highly conserved cysteine residues of ROM1 gene is the cause of retinitis pigmentosa in a Spanish family?

✍ Scribed by Carlos Reig; María Martinez-Gimeno; Miguel Carballo

• Publisher: John Wiley and Sons
• Year: 2000
• Tongue: English
• Weight: 11 KB
• Volume: 16
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/1098-1004(200009)16:3<278::aid-humu29>3.0.co;2-g