Small Deletion at the 7q21.2 Locus in a CCM Family Detected by Real-Time Quantitative PCR

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Small Deletion at the 7q21.2 Locus in a CCM Family Detected by Real-Time Quantitative PCR

hindawi.com

Cerebral cavernous malformations (CCMs) represent a common autosomal dominant disorder that predisposes patients to haemorrhagic strokes and focal neurological signs. About 56% of the hereditary forms of CCMs have been so far associated with mutations in the KRIT1 (Krev Interaction Trapped 1) gene, located at 7q21.2 (CCM1 locus). We described the complete loss of 7q21.2 locus encompassing the KRIT1 gene and 4 flanking genes in a CCM family by using a dense set of 12 microsatellite markers. The c

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Tags: Neurology, Stroke, Thrombotic Event, Disease and Condition, Genes

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Small Deletion at the 7q21.2 Locus in a CCM Family Detected by Real-Time Quantitative PCR: We described the compl... http://bit.ly/bG4bqA

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