Literature DB >> 7849440

[Hereditary optic atrophy].

B Lorenz1.   

Abstract

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Year:  1994        PMID： 7849440

Source DB:  PubMed          Journal:  Ophthalmologe        ISSN： 0941-293X            Impact factor:   1.059


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  3 in total

1.  Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene.

Authors:  Simone Schimpf; Simone Schaich; Bernd Wissinger
Journal:  Hum Genet       Date:  2005-12-02       Impact factor: 4.132

2.  OPA1, the disease gene for optic atrophy type Kjer, is expressed in the inner ear.

Authors:  Stefanie Bette; Ulrike Zimmermann; Bernd Wissinger; Marlies Knipper
Journal:  Histochem Cell Biol       Date:  2007-09-08       Impact factor: 4.304

3.  Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy.

Authors:  Nico Fuhrmann; Simone Schimpf; York Kamenisch; Beate Leo-Kottler; Christiane Alexander; Georg Auburger; Eberhart Zrenner; Bernd Wissinger; Marcel V Alavi
Journal:  Mol Neurodegener       Date:  2010-06-14       Impact factor: 14.195
  3 in total

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