PRKDC mutations in a SCID patient with profound neurological abnormalities

Journal of Clinical Investigation

Volumn 123, Issue 7, 2013, Pages 2969-2980

  Woodbine, Lisa ^a   Neal, Jessica A ^b   Sasi, Nanda Kumar ^b   Shimada, Mayuko ^c   Deem, Karen ^d   Coleman, Helen ^e   Dobyns, William B ^f   Ogi, Tomoo ^c   Meek, Katheryn ^b   Davies, E Graham ^g   Jeggo, Penny A ^a  

^a UNIVERSITY OF SUSSEX   (United Kingdom)

^b Michigan State University ^*  (United States)

^c NAGASAKI UNIVERSITY   (Japan)

^d QUEEN ALEXANDRA HOSPITAL   (United Kingdom)

^e ST MARY S HOSPITAL   (United Kingdom)

^f SEATTLE CHILDREN S HOSPITAL   (United States)

^g GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MEMBRANE PROTEIN; PRKDC PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; ATROPHY; B LYMPHOCYTE; BODY DYSMORPHIC DISORDER; CASE REPORT; CHILD; CLONOGENIC ASSAY; CONTROLLED STUDY; DOUBLE STRANDED DNA BREAK; ENZYME ACTIVITY; FIBROBLAST; GENE EXPRESSION; GENE MUTATION; GENETIC COMPLEMENTATION; GROWTH DISORDER; HETEROLOGOUS EXPRESSION; HETEROZYGOTE; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IMMUNOFLUORESCENCE; MALE; MICROCEPHALY; NEUROLOGIC DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; T LYMPHOCYTE;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; BASE SEQUENCE; BRAIN; CELL LINE; CHILD, PRESCHOOL; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA REPAIR; DNA-ACTIVATED PROTEIN KINASE; FATAL OUTCOME; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MICROCEPHALY; MOLECULAR DIAGNOSTIC TECHNIQUES; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NUCLEAR PROTEINS; POINT MUTATION; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 84879655395     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI67349     Document Type: Article

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