Two Thai families with Norrie disease (ND): Association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier

✍ Scribed by Yamada, Koki ;Limprasert, Pornprot ;Ratanasukon, Mansing ;Tengtrisorn, Supaporn ;Yingchareonpukdee, Juthamanee ;Vasiknanonte, Punnee ;Kitaoka, Takashi ;Ghadami, Mohsen ;Niikawa, Norio ;Kishino, Tatsuya

• Publisher: John Wiley and Sons
• Year: 2001
• Tongue: English
• Weight: 85 KB
• Volume: 100
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/1096-8628(20010415)100:1<52::aid-ajmg1214>3.0.co;2-b