A missense point mutation (Leu13Arg) of the Norrie disease...

A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease

Fuchs, S., Xu, S.Y., Caballero, M., Salcedo, M., O, A.La, Wedemann, H., Gal, A.
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Volume:
3
Year:
1994
Language:
english
Journal:
Human Molecular Genetics
DOI:
10.1093/hmg/3.4.655
File:
PDF, 1.74 MB
english, 1994
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