A de novo frame-shift mutation in the tuberin gene.
Kumar
A
A
Duke University Medical Center, Durham, NC 27710, USA.
Wolpert
C
C
Kandt
R S
RS
Segal
J
J
Pufky
J
J
Roses
A D
AD
Pericak-Vance
M A
MA
Gilbert
J R
JR
D000483:Alleles; D001483:Base Sequence; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008969:Molecular Sequence Data; D010375:Pedigree; D012097:Repressor Proteins / Q000235:genetics*; D014402:Tuberous Sclerosis / Q000235:genetics*; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins
D012097:Repressor Proteins; C000624653:TSC2 protein, human; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; D004247:DNA