SNP-array based whole genome homozygosity mapping: A quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients()

A large number of novel disease genes have been identified by homozygosity mapping and the positional candidate approach. In this study we used single nucleotide polymorphism (SNP) array-based, whole genome homozygosity mapping as the first step to a molecular diagnosis in the highly heterogeneous m...

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Autori principali: Papić, Lea, Fischer, Dirk, Trajanoski, Slave, Höftberger, Romana, Fischer, Carina, Ströbel, Thomas, Schmidt, Wolfgang M., Bittner, Reginald E., Schabhüttl, Maria, Gruber, Karin, Pieber, Thomas R., Janecke, Andreas R., Auer-Grumbach, Michaela
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2011
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Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3085821/
https://ncbi.nlm.nih.gov/pubmed/21172462
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2010.12.003
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