A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

Nature Genetics

Volumn 33, Issue 4, 2003, Pages 497-501

  O'Driscoll, Mark ^a   Ruiz Perez, Victor L ^b   Woods, C Geoffrey ^c   Jeggo, Penny A ^a   Goodship, Judith A ^b  

^a UNIVERSITY OF SUSSEX   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; ATAXIA TELANGIECTASIA; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 3Q; CONTROLLED STUDY; DNA DAMAGE; DWARFISM; EXCISION REPAIR; GENE LOCUS; GENE MAPPING; HUMAN; HUMAN CELL; INTRAUTERINE GROWTH RETARDATION; MENTAL DEFICIENCY; MICROCEPHALY; NIJMEGEN BREAKAGE SYNDROME; PAKISTAN; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING; SECKEL SYNDROME;

BASE SEQUENCE; CELL CYCLE PROTEINS; CELL LINE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 3; DNA DAMAGE; DOSE-RESPONSE RELATIONSHIP, RADIATION; EXONS; FIBROBLASTS; HUMANS; MITOMYCIN; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEIC ACID SYNTHESIS INHIBITORS; PHOSPHORYLATION; PROTEIN-SERINE-THREONINE KINASES; RECOMBINATION, GENETIC; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; SYNDROME; TIME FACTORS; ULTRAVIOLET RAYS;

ATAXIA; ATAXIA TELANGIECTASIA;

EID: 0345073699     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1129     Document Type: Article

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