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scopus: 6507456221

Berghuis, B.

(Bianca Berghuis)


mutation slc 11a nature protein individual /or transferrin saturation intracellular iron levels region nature genet 14 subjects family genet hemochromatosi marker patient level family members resonance imaging question mark analysis acid substitution genetic publishing haplotype liver biopsy linkage group subject transport sequence domain 6 mutations aniridia scl 11a web note autosomal brain disease web table b iron-responsive proteins 1 structure transporter divalent metal transporters chromosome 2 q aniridia cause defects department member transmembrane protein structure programs chromosome hypoplasia control anthropogenetics leiden university commissure circulation asp →his mutation volume locus identi fied fi nal diagnosis ethics committee approvals 2001. omer t table enterocyte mri slices reformatted van duijn 1 cause dutch iron levels result auditory interhemispheric transfer residue 10 transmembrane domains intron –exon boundaries result resistanceassociated macrophage protein 2 sequence alignment slc 11a function disorder scl 11a encodes basolateral membrane protein alteration




1 Most Recent Publications

A mutation in SLC11A3 gene is associated with autosomal dominant hemochromatosis (Article)
Njajou, O.T. Vaessen, N. Dongen, J.W.F. van Heutink, P. Joosse, M. Berghuis, B. Breuning, M.H. Snijders, P.J.L.M. Rutten, W.P.F. Sandkuijl, L.A. Oostra, B.A. Duijn, C.M. van
2001-07-20