Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families
- 1 November 1993
- journal article
- case report
- Published by Oxford University Press (OUP) in Human Molecular Genetics
- Vol. 2 (11) , 1953-1955
- https://doi.org/10.1093/hmg/2.11.1953
Abstract
J.–J. Fuentes, V. Volpinl, F. Fernandez-Toral, E. Coto, X. Estlvlll; Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gKeywords
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