Tempelaars, A.

mutation tsc 1 gene patient tsc 2 gene tuberous sclerosis tsc patients sclerosis tuberou tsc 1 analysis genet deletion change family tsc 1 mutations disease chromosome 21 coding exons missense article spectrum parent frame deletions 5 december 2006 verhoef protein table sscp analysis product diverence tsc 2 tuberin frame nonsense correlation kidney number coding diverent sequence slegtenhorst phenotype bakker 225 tuberous sclerosis polymorphism mutation r 692x tsc 2 genes december phenotypic population nonsense mutations tempelaar wolpert c 29 mutations tsc 2 mutation 9 q 34 jmg.bmj.com locus kandt rs 8.6 kb mrna downloaded diverent restriction enzymes hybridisation genomic exons 15 polycystic kidney disease exon 7 missense mutations group coil domain retardation collection evidence nellist study substitution splice identification insertion domain