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Molecular Findings in Families with an Initial Diagnose of Autosomal Dominant Retinitis Pigmentosa (adRP)

Genetic testing of probands in families with an initial diagnosis of autosomal dominant retinitis pigmentosa (adRP) usually confirms the diagnosis, but there are exceptions. We report results of genetic testing in a large cohort of adRP families with an emphasis on exceptional cases including X-link...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:Adv Exp Med Biol
Päätekijät: Daiger, Stephen P., Bowne, Sara J., Sullivan, Lori S., Branham, Kari, Wheaton, Dianna K., Jones, Kaylie D., Avery, Cheryl E., Cadena, Elizabeth D., Heckenlively, John R., Birch, David G.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2018
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7138351/
https://ncbi.nlm.nih.gov/pubmed/29721949
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/978-3-319-75402-4_29
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