Is the IVS2+4T>C variant of the HFE gene a splicing mutation or a polymorphism? A study in the Spanish population [4]

Genetics in Medicine

Volumn 7, Issue 3, 2005, Pages 212-213

  Pacho De Lucas, Arantza ^a   Guzman Fulgencio, Maria ^a   Muñoz Robles, Jorge ^a   Mancebo Sierra, Esther ^a   Del Rey Cerros, Manuel J ^a   Morales Perez, Pablo ^a  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 6; CONTROLLED STUDY; DNA POLYMORPHISM; GENE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC VARIABILITY; HAPLOTYPE; HEMOCHROMATOSIS; HFE GENE; HUMAN; LETTER; MAJOR HISTOCOMPATIBILITY COMPLEX; RNA SPLICING; SPAIN;

ALTERNATIVE SPLICING; GENE FREQUENCY; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; LINKAGE DISEQUILIBRIUM; MEMBRANE PROTEINS; MUTATION; POLYMORPHISM, GENETIC; SPAIN;

EID: 16444368850     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.GIM.0000157125.89581.09     Document Type: Letter

References (5)

1. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A et al. A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis. Nat Genet 1996;13:399-408.
2. de Villiers JNP, Hillermann R, Loubser L, Kotze MJ. Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. Hum Mol Genet 1999;8:1517-1522.
3. Pacho A, Mancebo E, del Rey MJ, Castro MJ, Oliver D, Berciano M et al. HLA haplotypes associated with hemochromatosis mutations in the Spanish population. BMC Med Genet 2004;5:25.
4. Schneider S, Roessli D, Excoffier L. Arlequin 2000: A software for population genetics data analysis. Geneva, Switzerland: Genetics and Biometry Laboratory, University of Geneva, 2000.
5. Porto G, Alves H, Rodrigues P, Cabeda JM, Portal C, Ruivo A et al. Major histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA-A29, and non-classical forms of hemochromatosis. Immunogenetics 1998;47:404-410.