Cargando…
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...
| Autor principal: | |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Molecular Vision
2014
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3892680/ https://www.ncbi.nlm.nih.gov/pubmed/24453473 |