An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele

Nature Genetics

Volumn 27, Issue 4, 2001, Pages 417-421

  Maser, Richard S ^a   Zinkel, Robert ^a   Petrini, John H J ^a  

^a UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ALTERNATIVE RNA SPLICING; AMINO TERMINAL SEQUENCE; ANIMAL CELL; ARTICLE; DNA REPLICATION; IMMUNOPRECIPITATION; NIJMEGEN BREAKAGE SYNDROME; NONHUMAN; OPEN READING FRAME; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN VARIANT; TRANSLATION REGULATION;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CELL LINE, TRANSFORMED; CHROMOSOME ABERRATIONS; DNA, COMPLEMENTARY; HUMANS; MOLECULAR SEQUENCE DATA; NUCLEAR PROTEINS; PROTEIN BIOSYNTHESIS; SYNDROME;

ANIMALIA;

EID: 0035068565     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/86920     Document Type: Article

References (16)

1. The Nijmegen breakage syndrome consortium. Nijmegen breakage syndrome
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5. Mre11 is essential for the maintenance of chromosomal DNA in vertebrate cells
6. Targeted disruption of the Nijmegen breakage syndrome gene NBS1 leads to early embryonic lethality in mice
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16. Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products