Article
Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations.
Human genetics - 1 May 2007
Kozlowski Piotr, Roberts Penelope, Dabora Sandra, Franz David, Bissler John, Northrup Hope, Au Kit Sing, Lazarus Ross, Domanska-Pakiela Dorota, Kotulska Katarzyna, Jozwiak Sergiusz, Kwiatkowski David J
Abstract excerpt
Tuberous sclerosis (TSC) is an autosomal dominant disorder caused by mutations in either of two genes, TSC1 and TSC2. Point mutations and small indels account for most TSC1 and TSC2 mutations. We examined 261 TSC DNA samples (209 small-mutation-negative and 52 unscreened) for large deletion/duplication mutations using multiplex ligation-dependent probe amplification (MLPA) probe sets designed to permit...
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