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Isolation of a cDNA representing the Fanconi anemia complementation group E gene.
de Winter, J P; Léveillé, F; van Berkel, C G; Rooimans, M A; van Der Weel, L; Steltenpool, J; Demuth, I; Morgan, N V; Alon, N; Bosnoyan-Collins, L; Lightfoot, J; Leegwater, P A; Waisfisz, Q; Komatsu, K; Arwert, F; Pronk, J C; Mathew, C G; Digweed, M; Buchwald, M; Joenje, H.
Affiliation
  • de Winter JP; Department of Clinical Genetics and Human Genetics, Free University Medical Center, NL-1081 BT Amsterdam, The Netherlands.
Am J Hum Genet ; 67(5): 1306-8, 2000 Nov.
Article in En | MEDLINE | ID: mdl-11001585
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Nuclear Proteins / Fanconi Anemia / Genetic Complementation Test / Mutation Limits: Humans Country/Region as subject: Asia Language: En Journal: Am J Hum Genet Year: 2000 Document type: Article Affiliation country: Netherlands Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Nuclear Proteins / Fanconi Anemia / Genetic Complementation Test / Mutation Limits: Humans Country/Region as subject: Asia Language: En Journal: Am J Hum Genet Year: 2000 Document type: Article Affiliation country: Netherlands Country of publication: United States