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...

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Detalles Bibliográficos
Autores principales: Riveiro-Alvarez, R., Valverde, D., Lorda-Sanchez, I., Trujillo-Tiebas, M. J., Cantalapiedra, D., Vallespin, E., Aguirre-Lamban, J., Ramos, C., Ayuso, C.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2007
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2553007/
https://www.ncbi.nlm.nih.gov/pubmed/17277736

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2553007/
https://www.ncbi.nlm.nih.gov/pubmed/17277736

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