Isolation of a cDNA representing the Fanconi anemia complementation group E gene.
Am J Hum Genet
; 67(5): 1306-8, 2000 Nov.
Article
em En
| MEDLINE
| ID: mdl-11001585
ABSTRACT
Fanconi anemia (FA) is an autosomal recessive chromosomal instability syndrome with at least seven different complementation groups. Four FA genes (FANCA, FANCC, FANCF, and FANCG) have been identified, and two other FA genes (FANCD and FANCE) have been mapped. Here we report the identification, by complementation cloning, of the gene mutated in FA complementation group E (FANCE). FANCE has 10 exons and encodes a novel 536-amino acid protein with two potential nuclear localization signals.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Proteínas Nucleares
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Anemia de Fanconi
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Teste de Complementação Genética
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Mutação
Idioma:
En
Ano de publicação:
2000
Tipo de documento:
Article