Arrayed primer extension technology simplifies mutation detection in Bardet–Biedl and Alström syndrome

Bardet–Biedl syndrome (BBS; OMIM no. 209 900) and Alström syndrome (ALMS; OMIM no. 203 800) are rare, multisystem genetic disorders showing both a highly variable phenotype and considerable phenotypic overlap; they are included in the emerging group of diseases called ciliopathies. The genetic heter...

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Bibliografiske detaljer
Main Authors: Pereiro, Ines, Hoskins, Bethan E, Marshall, Jan D, Collin, Gayle B, Naggert, Jürgen K, Piñeiro-Gallego, Teresa, Oitmaa, Eneli, Katsanis, Nicholas, Valverde, Diana, Beales, Philip L
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2011
Fag:
Short Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3060323/
https://ncbi.nlm.nih.gov/pubmed/21157496
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.207
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