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Genodermatoses / Rare diseases / Syndromes / RECQL4 / Rothmund–Thomson syndrome / RecQ helicase / Werner syndrome ATP-dependent helicase / Mutation / Molecular genetics / Health / Genetics / Biology


Human Molecular Genetics, 2003, Vol. 12, No. 21 DOI: [removed]hmg/ddg306
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City

Helsinki / Turku / Lindor / London / L.A. / /

Company

Gould / Adobe / GenBank / Thomson / Anna-Marja Sa / Clontech/BD Biosciences / Qiagen / Merck / Khoo A.S. / BD Biosciences / Suzuki / Oxford University Press / /

Country

Germany / United Kingdom / Finland / /

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Event

Product Issues / /

Facility

University of Turku / National Public Health Institute / Institute of Child Health / University of Helsinki / Turku University Central Hospital / C57BL/ National Public Health Institute / /

IndustryTerm

donor splice site / org/tools / carrier frequency / systematic search / splice site / /

MedicalCondition

individual diseases / high osteosarcoma risk / Lymphoma / Werner syndrome / dysfunction / osteosarcomas / single disorder / defectsc Cataracts Osteosarcoma Patellar hypo/aplasia Joint dislocations Diarrhoea/vomiting / human diseases / autosomal recessive disorder / premature ageing disorders / severe infantile meningitis / Finnish disease / mesenchymal tumors / Human Werner syndrome DNA / Werner syndrome sarcomas / significant cancer / rare RAPADILINO syndrome / poikiloderma and auto-immune enterocolitis / cancer / osteosarcoma diagnosis / disease / osteosarcoma and deleterious mutations / J. Cancer / osteosarcoma / Bloom syndrome / fragile X syndrome / vomiting / malformation syndrome / INTRODUCTION RAPADILINO syndrome / osteosarcoma prone subgroup / diseases / sarcomas / entirely new syndrome / Cockayne Syndrome / RAPADILINO syndrome / syndrome / osteosarcoma incidence / /

OperatingSystem

XP / /

Organization

National Research Council / University of Turku / Academy of Finland / Turku University Central Hospital / Family Federation of Finland / University of Helsinki / Helsinki / National Public Health Institute / Department of Molecular Medicine / Oxford University / Institute of Child Health / /

Person

Mikko Kuokkanen / Helena Ka / Nat / Eero Vuorio / /

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Position

RT / Harper / /

Product

M-16 / helicase activity / transcripts / /

ProvinceOrState

South Dakota / New Mexico / South Carolina / /

PublishedMedium

Molecular Biology / /

Technology

Genomics / hybridization / Cloning / genotyping / genotype / recombination / midi / /

URL

www.gdb.org / www.ncbi.nlm.nih.gov/Omim / http /

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