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Association between genotype and phenotype in families with mutations in the ABCA4 gene
PURPOSE: To investigate the genotype and phenotype in families with adenosine triphosphate–binding cassette, sub-family A, member 4 (ABCA4)–associated retinal degeneration. METHODS: Three families with at least one family member with known homozygous or compound heterozygote mutations in the ABCA4 g...
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| Autor principal: | |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Molecular Vision
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3892680/ https://ncbi.nlm.nih.gov/pubmed/24453473 |
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