WRN mutations in Werner syndrome patients: Genomic rearrangements, unusual intronic mutations and ethnic-specific alterations

Human Genetics

Volumn 128, Issue 1, 2010, Pages 103-111

  Friedrich, Katrin ^a   Lee, Lin ^b   Leistritz, Dru F ^b   Nürnberg, Gudrun ^a   Saha, Bidisha ^b   Hisama, Fuki M ^c   Eyman, Daniel K ^b   Lessel, Davor ^a   Nürnberg, Peter ^a   Li, Chumei ^d   Garcia F Villalta, María J ^e   Kets, Carolien M ^f   Schmidtke, Joerg ^g   Cruz, Vítor Tedim ^h   Van Den Akker, Peter C ⁱ   Boak, Joseph ^j   Peter, Dincy ^k   Compoginis, Goli ^l   Cefle, Kivanc ^m   Ozturk, Sukru ^m   López, Norberto ⁿ   Wessel, Theda ^o   Poot, Martin ^p   Ippel, P F ^p   Groff Kellermann, Birgit ^q   Hoehn, Holger ^r   Martin, George M ^b   Kubisch, Christian ^a   Oshima, Junko ^b   more..

^a UNIVERSITY OF COLOGNE   (Germany)

^b UNIVERSITY OF WASHINGTON   (United States)

^c Department of Medicine   (United States)

^d TORONTO GENERAL HOSPITAL   (Canada)

^e HOSPITAL UNIVERSITARIO DE LA PRINCESA   (Spain)

^f RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^g HANNOVER MEDICAL SCHOOL   (Germany)

^h Hospital So Sebastio   (Portugal)

ⁱ UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^j Riverview Medical Associates   (United States)

^k CHRISTIAN MEDICAL COLLEGE   (India)

^l UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^m ISTANBUL UNIVERSITY   (Turkey)

ⁿ HOSPITAL UNIVERSITARIO VIRGEN DE LA VICTORIA   (Spain)

^o CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^p UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^q General Hospital St Poelten   (Austria)

^r UNIVERSITY OF WÜRZBURG   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

WERNER SYNDROME PROTEIN; EXODEOXYRIBONUCLEASE; RECQ HELICASE; WRN PROTEIN, HUMAN;

ADULT; ARTICLE; CLINICAL ARTICLE; CONSENSUS; ETHNICITY; EXON; FEMALE; GENE LOCUS; GENE MUTATION; GENE REARRANGEMENT; GEOGRAPHIC DISTRIBUTION; HUMAN; HUMAN CELL; INTRON; JAPAN; MALE; MISSENSE MUTATION; NETHERLANDS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REGISTER; RNA SPLICING; TURKEY (BIRD); WERNER SYNDROME; CHROMOSOME BREAKAGE; FOUNDER EFFECT; GENETICS; MUTATION;

CHROMOSOME BREAKPOINTS; EXODEOXYRIBONUCLEASES; FEMALE; FOUNDER EFFECT; HUMANS; INTRONS; MALE; MUTATION; MUTATION, MISSENSE; RECQ HELICASES; WERNER SYNDROME;

EID: 77954025436     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-010-0832-5     Document Type: Article

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