A novel splice variant of the DNA-PKcs gene is associated with clinical and cellular radiosensitivity in a patient with xeroderma pigmentosum

Journal of Medical Genetics

Volumn 47, Issue 3, 2010, Pages 176-181

  Abbaszadeh, Fatemeh ^a   Clingen, Peter H ^b   Arlett, Colin F ^c   Plowman, Piers N ^d   Bourton, Emma C ^a   Themis, Matthew ^a   Makarov, Evgeny M ^a   Newbold, Robert F ^a   Green, Michael H L ^e   Parris, Christopher N ^a  

^a BRUNEL UNIVERSITY   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF SUSSEX   (United Kingdom)

^d ST BARTHOLOMEW S HOSPITAL   (United Kingdom)

^e UNIVERSITY OF BRIGHTON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CYCLIC AMP DEPENDENT PROTEIN KINASE CATALYTIC SUBUNIT; DOUBLE STRANDED DNA; PROTEIN KINASE; SPLICED LEADER RNA;

ANGIOSARCOMA; ARTICLE; CANCER RADIOTHERAPY; CASE REPORT; CELLULAR RADIATION HYPERSENSITIVITY; CHROMOSOME 10; CHROMOSOME 13; CHROMOSOME 2; CHROMOSOME 22; CHROMOSOME 5; CHROMOSOME 8; CHROMOSOME DELETION; CLONOGENIC ASSAY; DNA REPAIR; DNA SEQUENCE; DNA STRAND BREAKAGE; EXON; FIBROBLAST CULTURE; GENETIC COMPLEMENTATION; GENETIC DISORDER; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; HUMAN CHROMOSOME; IMMUNOFLUORESCENCE; IONIZING RADIATION; PRIORITY JOURNAL; RADIOSENSITIVITY; XERODERMA PIGMENTOSUM;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; CELL SURVIVAL; CELLS, CULTURED; DNA-ACTIVATED PROTEIN KINASE; HEAD AND NECK NEOPLASMS; HEMANGIOSARCOMA; HUMANS; ISOENZYMES; MOLECULAR SEQUENCE DATA; NUCLEAR PROTEINS; PROTEIN ISOFORMS; RADIATION INJURIES; RADIATION TOLERANCE; SCALP; SEQUENCE HOMOLOGY, AMINO ACID; SKIN NEOPLASMS; XERODERMA PIGMENTOSUM;

MAMMALIA;

EID: 77949724541     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.068866     Document Type: Article

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