Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy.
作者信息
Torrente I, Mangino M, Gennarelli M, Novelli G, Giannotti A, Vadalà P, Dallapiccola B
出版信息
Am J Med Genet. 1997 Oct 17;72(2):242-4. doi: 10.1002/(sici)1096-8628(19971017)72:2<242::aid-ajmg23>3.0.co;2-m.
Abstract
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