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Your search keyword '"Rutten Wp"' showing total 2 results
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2 results on '"Rutten Wp"'

1. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.

Author

Njajou OT, Vaessen N, Joosse M, Berghuis B, van Dongen JW, Breuning MH, Snijders PJ, Rutten WP, Sandkuijl LA, Oostra BA, van Duijn CM, and Heutink P

Subjects
Amino Acid Sequence, Female, Ferritins blood, Genes, Dominant, Genetic Linkage, Humans, Male, Molecular Sequence Data, Pedigree, Sequence Homology, Amino Acid, Transferrin analysis, Carrier Proteins genetics, Cation Transport Proteins, Hemochromatosis genetics, Mutation
Abstract

Hereditary hemochromatosis (HH) is a very common disorder characterized by iron overload and multi-organ damage. Several genes involved in iron metabolism have been implicated in the pathology of HH (refs. 1-4). We report that a mutation in the gene encoding Solute Carrier family 11, member A3 (SLC11A3), also known as ferroportin, is associated with autosomal dominant hemochromatosis.

Published
2001
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2. A mutation in SLC11A3 gene is associated with autosomal dominant hemochromatosis

Author

Omer T. Njajou, P.J.L.M. Snijders, Ben A. Oostra, Martijn H. Breuning, Peter Heutink, Marijke Joosse, Berghuis B, van Dongen Jw, Norbert Vaessen, van Duijn Cm, Lodewijk A. Sandkuijl, Rutten Wp, Epidemiology, Clinical Genetics, and Neurosciences

Subjects
Male, Genetic Linkage, Ferroportin, Molecular Sequence Data, Biology, medicine.disease_cause, Genetic linkage, Genetics, medicine, Humans, Amino Acid Sequence, Cation Transport Proteins, Hemochromatosis, Hemojuvelin, Genes, Dominant, Mutation, Sequence Homology, Amino Acid, Transferrin, medicine.disease, Juvenile hemochromatosis, Solute carrier family, Pedigree, Hereditary hemochromatosis, Ferritins, biology.protein, Female, Carrier Proteins
Abstract

Hereditary hemochromatosis (HH) is a very common disorder characterized by iron overload and multi-organ damage. Several genes involved in iron metabolism have been implicated in the pathology of HH (refs. 1-4). We report that a mutation in the gene encoding Solute Carrier family 11, member A3 (SLC11A3), also known as ferroportin, is associated with autosomal dominant hemochromatosis.

Published
2001

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