A new type of mutation causes a splicing defect in ATM

Nature Genetics

Volumn 30, Issue 4, 2002, Pages 426-429

  Paganil, Franco ^a   Burattil, Emanuele ^a   Stuani, Cristiana ^a   Bendix, Regina ^b   Dörk, Thilo ^b   Baralle, Francisco E ^a  

^a INTERNATIONAL CENTRE FOR GENETIC ENGINEERING AND BIOTECHNOLOGY   (Italy)

^b HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; SMALL NUCLEAR RIBONUCLEOPROTEIN; SMALL NUCLEAR RNA;

ADULT; ARTICLE; ATAXIA TELANGIECTASIA; AUTOSOMAL RECESSIVE DISORDER; CANCER SUSCEPTIBILITY; CASE REPORT; CEREBELLUM DEGENERATION; GENE MUTATION; HUMAN; MALE; PRIORITY JOURNAL; RNA SPLICING;

ADULT; ALTERNATIVE SPLICING; BASE SEQUENCE; BINDING SITES; CELL CYCLE PROTEINS; CELL LINE; CELL NUCLEUS; DNA-BINDING PROTEINS; EXONS; GENE DELETION; HETEROZYGOTE; HUMANS; INTRONS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEIC ACID HYBRIDIZATION; PLASMIDS; POINT MUTATION; PROTEIN-SERINE-THREONINE KINASES; RIBONUCLEOPROTEIN, U1 SMALL NUCLEAR; TUMOR SUPPRESSOR PROTEINS;

ATAXIA; ATAXIA TELANGIECTASIA;

EID: 0036544858     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng858     Document Type: Article

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