Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis

New England Journal of Medicine

Volumn 340, Issue 9, 1999, Pages 703-707

  Kwiatkowska, Jolanta ^a,b   Wigowska Sowinska, Jadwiga ^c   Napierala, Dobrawa ^b   Slomski, Ryszard ^b   Kwiatkowski, David J ^a,d  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b INSTITUTE OF HUMAN GENETICS   (Poland)

^c POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^d Division of Experimental Medicine   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; DIAGNOSTIC ACCURACY; GENETIC COUNSELING; HUMAN; HUMAN CELL; MOSAICISM; PRIORITY JOURNAL; TUBEROUS SCLEROSIS;

CHILD; DIAGNOSTIC ERRORS; FEMALE; HETERODUPLEX ANALYSIS; HUMANS; LEUKOCYTES; MALE; MOSAICISM; MUTATION; POLYMERASE CHAIN REACTION; PROTEINS; SEQUENCE ANALYSIS; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 0033522238     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199903043400905     Document Type: Article

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