Bakker, L.

mutation patient tsc 1 gene tsc 2 gene analysis tuberous sclerosis sclerosis tuberou family chromosome mosaicism parent genet deletion disease translocation tsc 1 tsc patients region verhoef probe father pkd 1 gene sscp analysis index patient article ct scan subependymal nodules kidney change proband retardation bakker gonadal mosaicism brain identification epilepsy breakpoint study 13.3 tsc 1 mutations polycystic kidney disease index table locus slegtenhorst tsc 2 polycystic angiofibroma gonadal macule phenotype syndrome december jmg.bmj.com genetic missense 21 coding exons 8 q 24.3 coding downloaded result 16 p 13.3 sequence spectrum subependymal mutation analysis hybridisation van slegtenhorst frame deletions 5 december 2006 pkd 1 genes protein aso hybridization analysis van den ouweland nodules children 4 december 2006 diagnosis mosaic