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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3413414/
https://www.ncbi.nlm.nih.gov/pubmed/22876109

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