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Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis.
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Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis.
Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis. N Engl J Med. 1999 Mar 04; 340(9):703-7.
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PubMed
subject areas
Child
Diagnostic Errors
Female
Heteroduplex Analysis
Humans
Leukocytes
Male
Mosaicism
Mutation
Polymerase Chain Reaction
Proteins
Sequence Analysis
Tuberous Sclerosis
Tumor Suppressor Proteins
authors with profiles
David Joseph Kwiatkowski, M.D., Ph.D.