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

BACKGROUND: Up to the 1950s, there was an ongoing debate about the diversity of hereditary optic neuropathies, in particular as to whether all inherited optic atrophies can be ascribed to Leber's hereditary optic neuropathy (LHON) or represent different disease entities. In 1954 W. Jaeger publi...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Fuhrmann, Nico, Schimpf, Simone, Kamenisch, York, Leo-Kottler, Beate, Alexander, Christiane, Auburger, Georg, Zrenner, Eberhart, Wissinger, Bernd, Alavi, Marcel V
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2010
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2893178/
https://ncbi.nlm.nih.gov/pubmed/20546606
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1326-5-25
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky