Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis.
Division of Experimental Medicine and Medical Oncology, Brigham and Women's Hospital, Boston, MA, USA.
J
J
Kwiatkowska
J
J
Wigowska-Sowinska
D
D
Napierala
R
R
Slomski
D J
DJ
Kwiatkowski
D002648:Child; D003951:Diagnostic Errors; D005260:Female; D020180:Heteroduplex Analysis; D006801:Humans; D007962:Leukocytes; D008297:Male; D009030:Mosaicism / Q000175:diagnosis*; D009154:Mutation; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D017421:Sequence Analysis; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000235:genetics*; D000077004:Tuberous Sclerosis Complex 1 Protein; D025521:Tumor Suppressor Proteins
D011506:Proteins; D000077004:Tuberous Sclerosis Complex 1 Protein; D025521:Tumor Suppressor Proteins