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Molecular approach in the study of Alström syndrome: Analysis of ten Spanish families

PURPOSE: To describe the clinical and genetic findings in 11 Spanish patients with confirmed (n=5) or suspected (n=6) Alström syndrome (AS). METHODS: Patients underwent clinical evaluation, and were screened for variations in Alström syndrome 1 gene (ALMS1) using a genotyping microarray from Asper O...

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Detalles Bibliográficos
Autores principales:	Piñeiro-Gallego, Teresa, Cortón, Marta, Ayuso, Carmen, Baiget, Montserrat, Valverde, Diana
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2012
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3413414/ https://www.ncbi.nlm.nih.gov/pubmed/22876109

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