Article
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.
Nature genetics - 1 Aug 1996
Feder J N, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy D A, Basava A, Dormishian F, Domingo R, Ellis M C, Fullan A, Hinton L M, Jones N L, Kimmel B E, Kronmal G S, Lauer P, Lee V K, Loeb D B, Mapa F A, McClelland E, Meyer N C, Mintier G A, Moeller N, Moore T, Morikang E, Prass C E, Quintana L, Starnes S M, Schatzman R C, Brunke K J, Drayna D T, Risch N J, Bacon B R, Wolff R K
Abstract excerpt
Hereditary haemochromatosis (HH), which affects some 1 in 400 and has an estimated carrier frequency of 1 in 10 individuals of Northern European descent, results in multi-organ dysfunction caused by increased iron deposition, and is treatable if detected early. Using linkage-disequilibrium and full haplotype analysis, we have identified a 250-kilobase region more than 3 megabases telomeric of the major...
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