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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Identification of 3 novel VHL germ-line mutations in Danish VHL patients

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  1. Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2

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  2. Studies of association of AGPAT6 variants with type 2 diabetes and related metabolic phenotypes in 12,068 Danes

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  3. Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients

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  4. Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%

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  1. The Number of Signaling Pathways Altered by Driver Mutations in Chronic Lymphocytic Leukemia Impacts Disease Outcome

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  2. Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

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  3. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

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von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome in which the patients develop retinal and central nervous system hemangioblastomas, pheochromocytomas and clear-cell renal tumors. The autosomal dominant disease is caused by mutations in the VHL gene.
Original languageEnglish
JournalB M C Medical Genetics
Volume13
Pages (from-to)54
ISSN1471-2350
DOIs
Publication statusPublished - 2012

    Research areas

  • Adolescent, Adult, Aged, Aged, 80 and over, Base Sequence, Child, Child, Preschool, DNA Mutational Analysis, Denmark, Female, Germ-Line Mutation, Humans, Infant, Male, Middle Aged, Molecular Sequence Data, Pedigree, Von Hippel-Lindau Tumor Suppressor Protein, Young Adult, von Hippel-Lindau Disease

ID: 36599843