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Molecular genetic heterogeneity in autosomal dominant drusen
OBJECTIVE—Autosomal dominant drusen is of particular interest because of its phenotypic similarity to age related macular degeneration. Currently, mutation R345W of EFEMP1 and, in a single pedigree, linkage to chromosome 6q14 have been causally related to the disease. We proposed to investigate and...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
2001
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734899/ https://ncbi.nlm.nih.gov/pubmed/11389162 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.38.6.381 |
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