A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy

PURPOSE: To determine the spectrum of mutations and phenotypic variability within patients with mutations in membrane-type frizzled related protein gene (MFRP). METHODS: Individuals were initially ascertained based on a phenotype similar to that previously published in association with MFRP mutation...

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Detalles Bibliográficos
Autores principales: Mukhopadhyay, Rajarshi, Sergouniotis, Panagiotis I., Mackay, Donna S., Day, Alexander C., Wright, Genevieve, Devery, Sophie, Leroy, Bart P., Robson, Anthony G., Holder, Graham E., Li, Zheng, Webster, Andrew R.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2846851/
https://www.ncbi.nlm.nih.gov/pubmed/20361016

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2846851/
https://www.ncbi.nlm.nih.gov/pubmed/20361016

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