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Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1

Retinitis pigmentosa (RP) is a group of progressive retinal dystrophies that include the most common hereditary degenerative diseases affecting the retina. Although most disease phenotypes appear to result from defects at single genetic loci (monogenic), at least one instance of RP appears to requir...

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Autors principals: Goldberg, Andrew F. X., Molday, Robert S.
Format: Artigo
Idioma:Inglês
Publicat: The National Academy of Sciences of the USA 1996
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC19405/
https://ncbi.nlm.nih.gov/pubmed/8943002
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