Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing

PLoS Genetics

Volumn 11, Issue 11, 2015, Pages

  Tyburczy, Magdalena E ^a   Dies, Kira A ^b   Glass, Jennifer ^c   Camposano, Susana ^d   Chekaluk, Yvonne ^a   Thorner, Aaron R ^e   Lin, Ling ^e   Krueger, Darcy ^c   Franz, David N ^c   Thiele, Elizabeth A ^d   Sahin, Mustafa ^b   Kwiatkowski, David J ^a  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e DANA FARBER CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; TUBERIN; TUBEROUS SCLEROSIS COMPLEX 1 PROTEIN; TUMOR SUPPRESSOR PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CONTROLLED STUDY; DNA DETERMINATION; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; INTRON; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MISSENSE MUTATION; MOLECULAR GENETICS; MOSAICISM; NEXT GENERATION SEQUENCING; PRESCHOOL CHILD; SCHOOL CHILD; SKIN BIOPSY; SKIN TUMOR; TSC1 GENE; TSC2 GENE; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR GENE; YOUNG ADULT; GENETICS; MUTATION;

HUMANS; INTRONS; MOSAICISM; MUTATION; TUMOR SUPPRESSOR PROTEINS;

EID: 84949239508     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1005637     Document Type: Article

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