Literature DB >> 8281159

Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families.

J J Fuentes1, V Volpini, F Fernández-Toral, E Coto, X Estivill.   

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Year:  1993        PMID： 8281159     DOI： 10.1093/hmg/2.11.1953

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  4 in total

1.  Mutations in the Norrie disease gene: a new mutation in a Japanese family.

Authors:  Y Isashiki; N Ohba; T Yanagita; N Hokita; Y Hotta; M Hayakawa; K Fujiki; U Tanabe
Journal:  Br J Ophthalmol       Date:  1995-07       Impact factor: 4.638

2.  Characterization and mapping of the mouse NDP (Norrie disease) locus (Ndp).

Authors:  E M Battinelli; Y Boyd; I W Craig; X O Breakefield; Z Y Chen
Journal:  Mamm Genome       Date:  1996-02       Impact factor: 2.957

3.  Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families.

Authors:  Y Isashiki; N Ohba; T Yanagita; N Hokita; N Doi; M Nakagawa; M Ozawa; N Kuroda
Journal:  Hum Genet       Date:  1995-01       Impact factor: 4.132

4.  Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy.

Authors:  Giancarlo Iarossi; Matteo Bertelli; Paolo Enrico Maltese; Elena Gusson; Giorgio Marchini; Alice Bruson; Sabrina Benedetti; Sabrina Volpetti; Gino Catena; Luca Buzzonetti; Lucia Ziccardi
Journal:  J Ophthalmol       Date:  2017-07-05       Impact factor: 1.909
  4 in total

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