A carregar...
Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease
PURPOSE: Stargardt disease (STGD) is the most common juvenile macular dystrophy, characterized by central visual impairment. All recessively inherited cases are thought to be due to mutations in the ABCA4 gene, mapped to 1p21-p13. METHODS: To describe a form of non-mendelian inheritance in a patient...
Na minha lista:
| Main Authors: | , , , , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Molecular Vision
2007
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2553007/ https://ncbi.nlm.nih.gov/pubmed/17277736 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|