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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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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Principais autores: Goldberg, Andrew F. X., Molday, Robert S.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 1996
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC19405/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8943002/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.93.24.13726
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