Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex

Human Genetics

Volumn 127, Issue 5, 2010, Pages 573-582

  Qin, Wei ^a   Kozlowski, Piotr ^a,f   Taillon, Bruce E ^b   Bouffard, Pascal ^b   Holmes, Alison J ^c   Janne, Pasi ^c   Camposano, Susana ^d   Thiele, Elizabeth ^d   Franz, David ^e   Kwiatkowski, David J ^a  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b 454 Life Sciences ^*  (United States)

^c DANA FARBER CANCER INSTITUTE   (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

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

^f INSTITUTE OF BIOORGANIC CHEMISTRY   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

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

ARTICLE; ARTIFACT; CLINICAL ARTICLE; GENE MUTATION; HUMAN; MOSAICISM; MUTATION RATE; PRIORITY JOURNAL; PYROSEQUENCING; TUBEROUS SCLEROSIS; GENETICS; GENOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; MASS SPECTROMETRY; METHODOLOGY; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS;

CHROMATOGRAPHY, HIGH PRESSURE LIQUID; GENOTYPE; HUMANS; MASS SPECTROMETRY; MOSAICISM; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 77951636154     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-010-0801-z     Document Type: Article

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